A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508413



Internal ID15824440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:76386679..76398451hg38UCSC Ensembl
Outerchr6:77096396..77108168hg19UCSC Ensembl
Outerchr6:77153116..77164888hg18UCSC Ensembl
Outerchr6:77153116..77164888hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3811773
hg1911773
hg1811773
hg1711773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622551, nssv617523
SamplesCHM, NA18994
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)nsv508413
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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