A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687698



Internal ID15077664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18143870..18146261hg38UCSC Ensembl
Innerchr22:18626637..18629028hg19UCSC Ensembl
Innerchr22:17006637..17009028hg18UCSC Ensembl
Innerchr22:17001191..17003582hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382392
hg192392
hg182392
hg172392
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516997
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687698
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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