A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511120



Internal ID15478614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32464218..32825694hg38UCSC Ensembl
Outerchr6:32431995..32793471hg19UCSC Ensembl
Outerchr6:32539973..32901449hg18UCSC Ensembl
Outerchr6:32539973..32901449hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38361477
hg19361477
hg18361477
hg17361477
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622374, nssv624304
SamplesNA18994, NA10860
Known GenesHLA-DOB, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRB1, HLA-DRB5, HLA-DRB6, TAP2
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv511120
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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