A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508175



Internal ID15824202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:159282659..159307895hg38UCSC Ensembl
Outerchr2:160139170..160164406hg19UCSC Ensembl
Outerchr2:159847416..159872652hg18UCSC Ensembl
Outerchr2:159964677..159989913hg17UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3825237
hg1925237
hg1825237
hg1725237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622822, nssv618697
SamplesNA18994, NA10860
Known GenesWDSUB1
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)nsv508175
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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