A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3685617



Internal ID18637212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39368209..39529434hg38UCSC Ensembl
Innerchr8:39225728..39386953hg19UCSC Ensembl
Innerchr8:39344885..39506110hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38161226
hg19161226
hg18161226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1020302
Supporting Variants
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3685617
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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