A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5100



Internal ID15544158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:71476346..71488422hg38UCSC Ensembl
Outerchr8:72388581..72400657hg19UCSC Ensembl
Outerchr8:72551135..72563211hg18UCSC Ensembl
Outerchr8:72551135..72563211hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg386532
hg196532
hg186532
hg176532
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6250
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)nssv5100
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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