A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520263



Internal ID8414538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237402969..237404553hg38UCSC Ensembl
Innerchr2:238311612..238313196hg19UCSC Ensembl
Innerchr2:237976351..237977935hg18UCSC Ensembl
Innerchr2:238093612..238095196hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381585
hg191585
hg181585
hg171585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662252, nssv679698, nssv683746
Samples
Known GenesCOL6A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520263
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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