A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508379



Internal ID15824406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:133581705..133592421hg38UCSC Ensembl
Outerchr5:132917396..132928112hg19UCSC Ensembl
Outerchr5:132945295..132956011hg18UCSC Ensembl
Outerchr5:132945295..132956011hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3810717
hg1910717
hg1810717
hg1710717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619962, nssv618778
SamplesNA15510, NA10860
Known GenesFSTL4
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)nsv508379
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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