A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508350



Internal ID15824377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:18235184..18302462hg38UCSC Ensembl
Outerchr5:18235293..18302571hg19UCSC Ensembl
Outerchr5:18271050..18338328hg18UCSC Ensembl
Outerchr5:18271050..18338328hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3867279
hg1967279
hg1867279
hg1767279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622520
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)nsv508350
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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