A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617509



Internal ID15816664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:44996984..45026196hg38UCSC Ensembl
Outerchr5:44997086..45026298hg19UCSC Ensembl
Outerchr5:45032843..45062055hg18UCSC Ensembl
Outerchr5:45032843..45062055hg17UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3829213
hg1929213
hg1829213
hg1729213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508353
Supporting Variants
SamplesCHM
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)nssv617509
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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