A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030680



Internal ID19119899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43552719..43907538hg38UCSC Ensembl
Innerchr8:43407862..43762681hg19UCSC Ensembl
Innerchr8:43527019..43881838hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38354820
hg19354820
hg18354820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7189n100
Supporting Variantsnssv3687288, nssv3687287
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030680
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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