GENETIC ENCYCLOPEDIA
ABOUT US    

   

GRCh37/hg19 16p11.2(chr16:29567295-30177916)x1 AND See cases

Significance: Pathogenic
ClinVar: RCV000446174

Variant: GRCh37/hg19 16p11.2(chr16:29567295-30177916)x1

Type: Variant
Allele: GRCh37/hg19 16p11.2(chr16:29567295-30177916)x1 384344
Gene:
Type: copy number loss
Location: Chr16: 29567295 - 30177916 - assembly GRCh37
References: dbVar: nsv995158
dbVar: nssv13656080
dbVar: nssv13654548
dbVar: nssv13646257
dbVar: nssv13643778

Condition

PhenotypeInstruction: See cases