A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507614



Internal ID6096948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:102479840..102485840hg19UCSC Ensembl
Outerchr11:101985050..101991050hg18UCSC Ensembl
Outerchr11:101985050..101991050hg17UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv617819, nssv623020
SamplesCHM, NA18994
Known GenesMMP20
Method
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)nsv507614
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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