A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508216



Internal ID15824243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:32025590..32067218hg38UCSC Ensembl
Outerchr3:32067082..32108710hg19UCSC Ensembl
Outerchr3:32042086..32083714hg18UCSC Ensembl
Outerchr3:32042086..32083714hg17UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg3841629
hg1941629
hg1841629
hg1741629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620207, nssv622455, nssv617474
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)nsv508216
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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