A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026030



Internal ID19115247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39389144..39511377hg38UCSC Ensembl
Innerchr8:39246663..39368896hg19UCSC Ensembl
Innerchr8:39365820..39488053hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38122234
hg19122234
hg18122234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7175n100
Supporting Variantsnssv3687632, nssv3756654
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)nsv1026030
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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