A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509400



Internal ID15476898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:34110735..34232487hg38UCSC Ensembl
Outerchr11:34132282..34254034hg19UCSC Ensembl
Outerchr11:34088858..34210610hg18UCSC Ensembl
Outerchr11:34088858..34210610hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg389307
hg199307
hg189307
hg179307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621186
SamplesNA15510
Known GenesABTB2, NAT10
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)nsv509400
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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