A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508524



Internal ID15824551
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 StatusM
Merged Variants
Supporting Variantsnssv622602, nssv620014
SamplesNA15510, NA18994
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)nsv508524
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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