A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019117



Internal ID19108335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39495091hg38UCSC Ensembl
Innerchr8:39235591..39352610hg19UCSC Ensembl
Innerchr8:39354748..39471767hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38117020
hg19117020
hg18117020
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7167n100
Supporting Variantsnssv3685253, nssv3685254
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)nsv1019117
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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