A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508311



Internal ID15824338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:126182230..126204104hg38UCSC Ensembl
Outerchr4:127103385..127125259hg19UCSC Ensembl
Outerchr4:127322835..127344709hg18UCSC Ensembl
Outerchr4:127460990..127482864hg17UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3821875
hg1921875
hg1821875
hg1721875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622499
SamplesNA18994
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)nsv508311
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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