A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620017



Internal ID15819374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:134052456..134077407hg38UCSC Ensembl
Outerchr8:135064699..135089650hg19UCSC Ensembl
Outerchr8:135133881..135158832hg18UCSC Ensembl
Outerchr8:135133881..135158832hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3824952
hg1924952
hg1824952
hg1724952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508531
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)nssv620017
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