A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700418



Internal ID15090384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216410728..216424792hg38UCSC Ensembl
Innerchr2:217275451..217289515hg19UCSC Ensembl
Innerchr2:216983696..216997760hg18UCSC Ensembl
Innerchr2:217100957..217115021hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3814065
hg1914065
hg1814065
hg1714065
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524480
Supporting Variants
Samples
Known GenesSMARCAL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700418
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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