A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508430



Internal ID15824457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:133015189..133027112hg38UCSC Ensembl
Outerchr6:133336328..133348251hg19UCSC Ensembl
Outerchr6:133378021..133389944hg18UCSC Ensembl
Outerchr6:133378021..133389944hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3811924
hg1911924
hg1811924
hg1711924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619983, nssv618798
SamplesNA15510, NA10860
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)nsv508430
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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