A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620011



Internal ID15472682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:69948186..70113308hg38UCSC Ensembl
Outerchr8:70860421..71025543hg19UCSC Ensembl
Outerchr8:71022975..71188097hg18UCSC Ensembl
Outerchr8:71022975..71188097hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38165123
hg19165123
hg18165123
hg17165123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508513
Supporting Variants
SamplesNA15510
Known GenesNCOA2, PRDM14
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)nssv620011
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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