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GRCh37/hg19 16p11.2(chr16:29567296-30177807)x1 AND See cases

Significance: Pathogenic
ClinVar: RCV000511641

Variant: GRCh37/hg19 16p11.2(chr16:29567296-30177807)x1

Type: Variant
Allele: GRCh37/hg19 16p11.2(chr16:29567296-30177807)x1 436728
Gene:
Type: copy number loss
Location: Chr16: 29567296 - 30177807 - assembly GRCh37
References: dbVar: nsv2776719
dbVar: nssv13650466

Condition

PhenotypeInstruction: See cases