A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009793



Internal ID19099012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207469372..207495060hg38UCSC Ensembl
Innerchr2:208334096..208359784hg19UCSC Ensembl
Innerchr2:208042341..208068029hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3825689
hg1925689
hg1825689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4155n100
Supporting Variantsnssv3585570, nssv3585571, nssv3585569
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)nsv1009793
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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