A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508365



Internal ID15824392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:66557983..66606960hg38UCSC Ensembl
Outerchr5:65853811..65902788hg19UCSC Ensembl
Outerchr5:65889567..65938544hg18UCSC Ensembl
Outerchr5:65889567..65938544hg17UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3848978
hg1948978
hg1848978
hg1748978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619958
SamplesNA15510
Known GenesMAST4
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)nsv508365
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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