A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623803



Internal ID15475690
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
hg383204
hg193204
hg183204
hg173204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509382
Supporting Variants
SamplesNA18994
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)nssv623803
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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