A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619317



Internal ID15817898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47870266..47895346hg38UCSC Ensembl
Outerchr11:47891818..47916898hg19UCSC Ensembl
Outerchr11:47848394..47873474hg18UCSC Ensembl
Outerchr11:47848394..47873474hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg384495
hg194495
hg184495
hg174495
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509406
Supporting Variants
SamplesNA10860
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)nssv619317
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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