A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010047



Internal ID19099266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:193614792..194328275hg38UCSC Ensembl
Innerchr2:194479516..195192999hg19UCSC Ensembl
Innerchr2:194187761..194901244hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38713484
hg19713484
hg18713484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4143n100
Supporting Variantsnssv3583922
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)nsv1010047
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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