A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508882



Internal ID6099592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:208958286..208988097hg19UCSC Ensembl
Outerchr2:208666531..208696342hg18UCSC Ensembl
Outerchr2:208783792..208813603hg17UCSC Ensembl
Cytoband2q33.3
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 Variantsnssv619297, nssv623360, nssv621182
SamplesNA18994, NA15510, NA10860
Known GenesCRYGD, LOC100507443
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)nsv508882
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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