A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622523



Internal ID15474410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:60694481..60755067hg38UCSC Ensembl
Outerchr5:59990308..60050894hg19UCSC Ensembl
Outerchr5:60026065..60086651hg18UCSC Ensembl
Outerchr5:60026065..60086651hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3860587
hg1960587
hg1860587
hg1760587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508362
Supporting Variants
SamplesNA18994
Known GenesDEPDC1B, ELOVL7
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)nssv622523
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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