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GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 AND See cases

Significance: Pathogenic
ClinVar: RCV000050627

Variant: GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3

Type: Variant
Allele: GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 71631
Gene:
Type: copy number gain
Location: Chr11: 113315168 - 120519630 - assembly GRCh37
Chr11: 112820378 - 120024840 - assembly NCBI36
Chr11: 113444446 - 120648921 - assembly GRCh38
Chr11: 113444446 - 120648921 - assembly GRCh38
References: dbVar: nsv529264
dbVar: nssv578604

Condition

PhenotypeInstruction: See cases