A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508402



Internal ID15824429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:34873184..34983511hg38UCSC Ensembl
Outerchr6:34840961..34951288hg19UCSC Ensembl
Outerchr6:34948939..35059266hg18UCSC Ensembl
Outerchr6:34948939..35059266hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38110328
hg19110328
hg18110328
hg17110328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622547
SamplesNA18994
Known GenesANKS1A, TAF11, UHRF1BP1
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)nsv508402
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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