A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004467



Internal ID19093685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:143050025..143081763hg38UCSC Ensembl
Innerchr3:142768867..142800605hg19UCSC Ensembl
Innerchr3:144251557..144283295hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3831739
hg1931739
hg1831739
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4913n100
Supporting Variantsnssv3606124
Samples
Known GenesU2SURP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004467
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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