A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601278



Internal ID16042001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29886431..29944617hg38UCSC Ensembl
Innerchr6:29854208..29912394hg19UCSC Ensembl
Innerchr6:29962187..30020373hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3858187
hg1958187
hg1858187
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10347n54
Supporting Variantsnssv1051822
Samples
Known GenesHCG4B, HLA-A, HLA-H
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601278
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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