A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508428



Internal ID15480104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:121651186..121732283hg38UCSC Ensembl
Outerchr6:121972332..122053429hg19UCSC Ensembl
Outerchr6:122014031..122095128hg18UCSC Ensembl
Outerchr6:122014031..122095128hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3881098
hg1981098
hg1881098
hg1781098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622557
SamplesNA18994
Known Genes
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)nsv508428
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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