A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6219



Internal ID15190959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42298991..42342579hg38UCSC Ensembl
Outerchr8:42156509..42200097hg19UCSC Ensembl
Outerchr8:42275666..42319254hg18UCSC Ensembl
Outerchr8:42275666..42319254hg17UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3843589
hg1943589
hg1843589
hg1743589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6169
Supporting Variants
SamplesNA12156
Known GenesIKBKB, POLB
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)nssv6219
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