A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508223



Internal ID15824250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:68554479..68596204hg38UCSC Ensembl
Outerchr3:68603630..68645355hg19UCSC Ensembl
Outerchr3:68686320..68728045hg18UCSC Ensembl
Outerchr3:68686320..68728045hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3841726
hg1941726
hg1841726
hg1741726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622461, nssv617476, nssv620210
SamplesCHM, NA15510, NA18994
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)nsv508223
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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