A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618778



Internal ID15818582
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 StatusS
Merged Variantsnsv508379
Supporting Variants
SamplesNA10860
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)nssv618778
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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