A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620012



Internal ID15819369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:82034716..82040606hg38UCSC Ensembl
Outerchr8:82946951..82952841hg19UCSC Ensembl
Outerchr8:83109506..83115396hg18UCSC Ensembl
Outerchr8:83109506..83115396hg17UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg385891
hg195891
hg185891
hg175891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508516
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)nssv620012
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer