A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508221



Internal ID15824248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:67436816..67459005hg38UCSC Ensembl
Outerchr3:67487240..67509429hg19UCSC Ensembl
Outerchr3:67569930..67592119hg18UCSC Ensembl
Outerchr3:67569930..67592119hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3822190
hg1922190
hg1822190
hg1722190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622460, nssv617475
SamplesCHM, NA18994
Known GenesSUCLG2
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)nsv508221
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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