A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521211



Internal ID15448504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130599118..130602004hg38UCSC Ensembl
Innerchr3:130317962..130320848hg19UCSC Ensembl
Innerchr3:131800652..131803538hg18UCSC Ensembl
Innerchr3:131800660..131803546hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382887
hg192887
hg182887
hg172887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv693471, nssv685250
Samples
Known GenesCOL6A6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521211
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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