A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3640791



Internal ID18592386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65064844..65204090hg38UCSC Ensembl
Innerchr5:64360671..64499917hg19UCSC Ensembl
Innerchr5:64396427..64535673hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38139247
hg19139247
hg18139247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022902
Supporting Variants
Samples
Known GenesADAMTS6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3640791
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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