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GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 AND See cases

Significance: Pathogenic
ClinVar: RCV000136053

Variant: GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3

Type: Variant
Allele: GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 156565
Gene:
Type: copy number gain
Location: Chr2: 58279519 - 83586962 - assembly GRCh38
Chr2: 58506654 - 83814086 - assembly GRCh37
Chr2: 58360158 - 83667597 - assembly NCBI36
Chr2: 58279519 - 83586962 - assembly GRCh38
References: dbVar: nsv533349
dbVar: nssv706886

Condition

PhenotypeInstruction: See cases