A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5124



Internal ID15197443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:119137992..119173562hg38UCSC Ensembl
Outerchr8:120150231..120185801hg19UCSC Ensembl
Outerchr8:120219412..120254982hg18UCSC Ensembl
Outerchr8:120219412..120254982hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3835571
hg1935571
hg1835571
hg1735571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6363
Supporting Variants
SamplesNA19129
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5124
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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