A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011964



Internal ID18754500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128634463..128693476hg38UCSC Ensembl
Innerchr3:128353306..128412319hg19UCSC Ensembl
Innerchr3:129835996..129895009hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3859014
hg1959014
hg1859014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4855n100
Supporting Variantsnssv3603514
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)nsv1011964
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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