A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602139



Internal ID16389548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32475674..32521324hg38UCSC Ensembl
Innerchr6:32443451..32489101hg19UCSC Ensembl
Innerchr6:32551429..32597079hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3845651
hg1945651
hg1845651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10495n54
Supporting Variantsnssv1053944, nssv1053943, nssv1053946, nssv1053945, nssv1053947
Samples
Known GenesHLA-DRB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602139
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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