A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602517



Internal ID16389926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32553420..32658151hg38UCSC Ensembl
Innerchr6:32521197..32625928hg19UCSC Ensembl
Innerchr6:32629175..32733906hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38104732
hg19104732
hg18104732
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10554n54
Supporting Variantsnssv1055735, nssv1055731, nssv1055733, nssv1055734, nssv1055732, nssv1055736
Samples
Known GenesHLA-DQA1, HLA-DRB1, HLA-DRB6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602517
Frequency
Sample Size17421
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer