A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5086



Internal ID15544176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:48972783..49017955hg38UCSC Ensembl
Outerchr8:49885342..49930514hg19UCSC Ensembl
Outerchr8:50047895..50093067hg18UCSC Ensembl
Outerchr8:50047895..50093067hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3845173
hg1945173
hg1845173
hg1745173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6181
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)nssv5086
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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