A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016097



Internal ID18758632
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 StatusM
Merged Variants
Supporting Variantsnssv3746685
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)nsv1016097
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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