A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703585



Internal ID15440237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43214802..43258471hg38UCSC Ensembl
Innerchr22:43610808..43654477hg19UCSC Ensembl
Innerchr22:41940752..41984421hg18UCSC Ensembl
Innerchr22:41935306..41978975hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3843670
hg1943670
hg1843670
hg1743670
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)nssv703585
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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