A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620014



Internal ID15819371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:114588299..114645612hg38UCSC Ensembl
Outerchr8:115600528..115657841hg19UCSC Ensembl
Outerchr8:115669704..115727017hg18UCSC Ensembl
Outerchr8:115669704..115727017hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3857314
hg1957314
hg1857314
hg1757314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508524
Supporting Variants
SamplesNA15510
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)nssv620014
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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