A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061400



Internal ID18803931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45347435..45392721hg38UCSC Ensembl
Innerchr19:45850693..45895979hg19UCSC Ensembl
Innerchr19:50542533..50587819hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3845287
hg1945287
hg1845287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3606n100
Supporting Variantsnssv3724895, nssv3573797, nssv3573796, nssv3724894, nssv3724893
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)nsv1061400
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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