A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705813



Internal ID15095779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41255030..41395532hg38UCSC Ensembl
Innerchr22:41651034..41791536hg19UCSC Ensembl
Innerchr22:39980980..40121482hg18UCSC Ensembl
Innerchr22:39975534..40116036hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38140503
hg19140503
hg18140503
hg17140503
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516925
Supporting Variants
Samples
Known GenesRANGAP1, TEF, ZC3H7B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705813
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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