A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013064



Internal ID18755595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128621905..128705613hg38UCSC Ensembl
Innerchr3:128340748..128424456hg19UCSC Ensembl
Innerchr3:129823438..129907146hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3883709
hg1983709
hg1883709
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4855n100
Supporting Variantsnssv3603513
Samples
Known GenesRPN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013064
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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