A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703654



Internal ID15440306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43231640..43235346hg38UCSC Ensembl
Innerchr22:43627646..43631352hg19UCSC Ensembl
Innerchr22:41957590..41961296hg18UCSC Ensembl
Innerchr22:41952144..41955850hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383707
hg193707
hg183707
hg173707
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520927
Supporting Variants
Samples
Known GenesSCUBE1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703654
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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