A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002058



Internal ID18744589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:84707893..85340726hg38UCSC Ensembl
Innerchr3:84757044..85389876hg19UCSC Ensembl
Innerchr3:84839734..85472566hg18UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg38632834
hg19632833
hg18632833
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3596264
Samples
Known GenesCADM2, LINC00971
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002058
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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