A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521344



Internal ID15101951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230403210..230416571hg38UCSC Ensembl
Innerchr2:231267925..231281286hg19UCSC Ensembl
Innerchr2:230976169..230989530hg18UCSC Ensembl
Innerchr2:231093430..231106791hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3813362
hg1913362
hg1813362
hg1713362
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697953
Samples
Known GenesSP100, SP140L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521344
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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