A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509438



Internal ID15825464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:94212615..94258411hg38UCSC Ensembl
Outerchr11:93945781..93991577hg19UCSC Ensembl
Outerchr11:93585429..93631225hg18UCSC Ensembl
Outerchr11:93585429..93631225hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3836415
hg1936415
hg1836415
hg1736415
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620863, nssv619443
SamplesNA15510, NA10860
Known Genes
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)nsv509438
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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