A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519457



Internal ID15446750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:85879572..85939987hg38UCSC Ensembl
Innerchr6:86589290..86649705hg19UCSC Ensembl
Innerchr6:86646009..86706424hg18UCSC Ensembl
Innerchr6:86646009..86706424hg17UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3860416
hg1960416
hg1860416
hg1760416
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656255, nssv662953, nssv701397
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519457
Frequency
Sample Size2026
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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