A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694626



Internal ID15084592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29578842..29587149hg38UCSC Ensembl
Innerchr22:29974831..29983138hg19UCSC Ensembl
Innerchr22:28304831..28313138hg18UCSC Ensembl
Innerchr22:28299385..28307692hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg388308
hg198308
hg188308
hg178308
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521852
Supporting Variants
Samples
Known GenesNIPSNAP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694626
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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