A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526814



Internal ID15454107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130413013..130415719hg38UCSC Ensembl
Innerchr3:130131857..130134563hg19UCSC Ensembl
Innerchr3:131614547..131617253hg18UCSC Ensembl
Innerchr3:131614555..131617261hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382707
hg192707
hg182707
hg172707
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703168
Samples
Known GenesCOL6A5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526814
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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