A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623433



Internal ID15822006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68390400..68462196hg38UCSC Ensembl
Outerchr11:68157868..68229664hg19UCSC Ensembl
Outerchr11:67914444..67986240hg18UCSC Ensembl
Outerchr11:67914444..67986240hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg387746
hg197746
hg187746
hg177746
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509420
Supporting Variants
SamplesNA18994
Known GenesLRP5, PPP6R3
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)nssv623433
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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