A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060010



Internal ID18802541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45347435..45400204hg38UCSC Ensembl
Innerchr19:45850693..45903462hg19UCSC Ensembl
Innerchr19:50542533..50595302hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3852770
hg1952770
hg1852770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3606n100
Supporting Variantsnssv3724896, nssv3724900, nssv3724898, nssv3573799, nssv3724897, nssv3573798, nssv3724899
Samples
Known GenesERCC2, KLC3, PPP1R13L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060010
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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