A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508398



Internal ID15480074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29858000..30035626hg38UCSC Ensembl
Outerchr6:29825777..30003403hg19UCSC Ensembl
Outerchr6:29933756..30111382hg18UCSC Ensembl
Outerchr6:29933756..30111382hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38177627
hg19177627
hg18177627
hg17177627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619972, nssv618786, nssv622545
SamplesNA18994, NA15510, NA10860
Known GenesHCG4B, HCG8, HCG9, HLA-A, HLA-H, HLA-J, ZNRD1-AS1
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)nsv508398
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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