A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592519



Internal ID16379928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:172621962..172680078hg38UCSC Ensembl
Innerchr3:172339752..172397868hg19UCSC Ensembl
Innerchr3:173822446..173880562hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3858117
hg1958117
hg1858117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8730n54
Supporting Variantsnssv1152056, nssv1152055, nssv1152058, nssv1152060, nssv1152061, nssv1152057, nssv1152059
SamplesHGDP01056, HGDP01052, HGDP01048, HGDP01040, HGDP01037, HGDP01061, HGDP01038
Known GenesNCEH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592519
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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