A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508318



Internal ID15824345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:138526521..138568246hg38UCSC Ensembl
Outerchr4:139447675..139489400hg19UCSC Ensembl
Outerchr4:139667125..139708850hg18UCSC Ensembl
Outerchr4:139805280..139847005hg17UCSC Ensembl
Cytoband4q28.3
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 Variantsnssv618754, nssv622501, nssv617498
SamplesCHM, NA18994, 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)nsv508318
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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