A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524480



Internal ID8418755
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700418
Samples
Known GenesSMARCAL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524480
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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