A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508168



Internal ID15479844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134129632..134219970hg38UCSC Ensembl
Outerchr2:134887203..134977541hg19UCSC Ensembl
Outerchr2:134603673..134694011hg18UCSC Ensembl
Outerchr2:134720935..134811273hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3890339
hg1990339
hg1890339
hg1790339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618695, nssv620191
SamplesNA15510, NA10860
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)nsv508168
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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