A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8516



Internal ID15535348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:78244588..78289785hg38UCSC Ensembl
Outerchr8:79156823..79202020hg19UCSC Ensembl
Outerchr8:79319378..79364575hg18UCSC Ensembl
Outerchr8:79319378..79364575hg17UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3845198
hg1945198
hg1845198
hg1745198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6266
Supporting Variants
SamplesNA12156
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)nssv8516
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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