A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624304



Internal ID15476191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32464218..32687532hg38UCSC Ensembl
Outerchr6:32431995..32655309hg19UCSC Ensembl
Outerchr6:32539973..32763287hg18UCSC Ensembl
Outerchr6:32539973..32763287hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38223315
hg19223315
hg18223315
hg17223315
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511120
Supporting Variants
SamplesNA18994
Known GenesHLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB5, HLA-DRB6
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)nssv624304
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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