A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509382



Internal ID15476880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2376150..2439195hg38UCSC Ensembl
Outerchr11:2397380..2460425hg19UCSC Ensembl
Outerchr11:2353956..2417001hg18UCSC Ensembl
Outerchr11:2353956..2417001hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg383712
hg193712
hg183712
hg173712
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623803, nssv619822
SamplesNA18994, NA10860
Known GenesCD81, CD81-AS1, TRPM5, TSSC4
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)nsv509382
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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