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GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 AND See cases

Significance: Pathogenic
ClinVar: RCV000052914

Variant: GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3

Type: Variant
Allele: GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 73711
Gene:
Type: copy number gain
Location: Chr19: 48411797 - 59051332 - assembly GRCh37
Chr19: 53103609 - 63743144 - assembly NCBI36
Chr19: 47908540 - 58539965 - assembly GRCh38
Chr19: 47908540 - 58539965 - assembly GRCh38
References: dbVar: nsv531628
dbVar: nssv578809

Condition

PhenotypeInstruction: See cases