A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623359



Internal ID15821932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190606095..190622792hg38UCSC Ensembl
Outerchr2:191470821..191487518hg19UCSC Ensembl
Outerchr2:191179066..191195763hg18UCSC Ensembl
Outerchr2:191296327..191313024hg17UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg383437
hg193437
hg183437
hg173437
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508879
Supporting Variants
SamplesNA18994
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)nssv623359
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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