A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003060



Internal ID19092277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13064541..13140112hg38UCSC Ensembl
Innerchr2:13204666..13280237hg19UCSC Ensembl
Innerchr2:13122117..13197688hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3875572
hg1975572
hg1875572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3718n100
Supporting Variantsnssv3726786
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)nsv1003060
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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