A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv983575



Internal ID16277531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191343425..191350799hg38UCSC Ensembl
Innerchr3:191061214..191068588hg19UCSC Ensembl
Innerchr3:192543908..192551282hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg387375
hg197375
hg187375
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv592822
Supporting Variants
Samples
Known GenesCCDC50
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv983575
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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