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GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 AND See cases

Significance: Pathogenic
ClinVar: RCV000052915

Variant: GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3

Type: Variant
Allele: GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 73712
Gene:
Type: copy number gain
Location: Chr19: 48432832 - 59083573 - assembly GRCh37
Chr19: 53124644 - 63775385 - assembly NCBI36
Chr19: 47929575 - 58572206 - assembly GRCh38
Chr19: 47929575 - 58572206 - assembly GRCh38
References: dbVar: nsv531629
dbVar: nssv578810

Condition

PhenotypeInstruction: See cases