A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3746685



Internal ID18698280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179117083..179439000hg38UCSC Ensembl
Innerchr5:178544084..178866001hg19UCSC Ensembl
Innerchr5:178476690..178798607hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38321918
hg19321918
hg18321918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1016097
Supporting Variants
Samples
Known GenesADAMTS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3746685
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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