A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521850



Internal ID15102457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:51052256..51210278hg38UCSC Ensembl
Innerchr2:51279394..51437416hg19UCSC Ensembl
Innerchr2:51132898..51290920hg18UCSC Ensembl
Innerchr2:51191045..51349067hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38158023
hg19158023
hg18158023
hg17158023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694625
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521850
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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