A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579048



Internal ID16366457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:23489124..23878178hg38UCSC Ensembl
Innerchr19:23671926..24060980hg19UCSC Ensembl
Innerchr19:23463766..23852820hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38389055
hg19389055
hg18389055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6344n54
Supporting Variantsnssv896911
Samples
Known GenesRPSAP58, ZNF675, ZNF681
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579048
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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