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GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) AND See cases

Significance: Pathogenic
ClinVar: RCV000512296

Variant: GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)

Type: Variant
Allele: GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) 437161
Gene:
Type: copy number gain
Location: Chr19: 260912 - 58956888 - assembly GRCh37
References: dbVar: nsv2779094
dbVar: nssv13646143

Condition

PhenotypeInstruction: See cases