A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508439



Internal ID15824466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166081159..166096740hg38UCSC Ensembl
Outerchr6:166494647..166510228hg19UCSC Ensembl
Outerchr6:166414637..166430218hg18UCSC Ensembl
Outerchr6:166465058..166480639hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3815582
hg1915582
hg1815582
hg1715582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622563
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)nsv508439
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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