A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619825



Internal ID15471720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2476049..2601114hg38UCSC Ensembl
Outerchr11:2497279..2622344hg19UCSC Ensembl
Outerchr11:2453855..2578920hg18UCSC Ensembl
Outerchr11:2453855..2578920hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg386763
hg196763
hg186763
hg176763
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509383
Supporting Variants
SamplesNA10860
Known GenesKCNQ1
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)nssv619825
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer