A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006843



Internal ID19096061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207475081..207498180hg38UCSC Ensembl
Innerchr2:208339805..208362904hg19UCSC Ensembl
Innerchr2:208048050..208071149hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3823100
hg1923100
hg1823100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4155n100
Supporting Variantsnssv3585585, nssv3585584
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)nsv1006843
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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