A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524328



Internal ID15104935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:70252130..70849102hg38UCSC Ensembl
Innerchr6:70961833..71558805hg19UCSC Ensembl
Innerchr6:71018554..71615526hg18UCSC Ensembl
Innerchr6:71018554..71615526hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38596973
hg19596973
hg18596973
hg17596973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700234
Samples
Known GenesC6orf57, COL9A1, FAM135A, SMAP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524328
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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