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GRCh38/hg38 22q13.2(chr22:40832364-41076954)x1 AND See cases

Significance: Pathogenic
ClinVar: RCV000051369

Variant: GRCh38/hg38 22q13.2(chr22:40832364-41076954)x1

Type: Variant
Allele: GRCh38/hg38 22q13.2(chr22:40832364-41076954)x1 72229
Gene:
Type: copy number loss
Location: Chr22: 39558314 - 39802904 - assembly NCBI36
Chr22: 40832364 - 41076954 - assembly GRCh38
Chr22: 41228368 - 41472958 - assembly GRCh37
Chr22: 40832364 - 41076954 - assembly GRCh38
References: dbVar: nsv529892
dbVar: nssv577856

Condition

PhenotypeInstruction: See cases