A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8471



Internal ID15188707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19642043..19686738hg38UCSC Ensembl
Outerchr8:19499554..19544249hg19UCSC Ensembl
Outerchr8:19543834..19588529hg18UCSC Ensembl
Outerchr8:19543834..19588529hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3844696
hg1944696
hg1844696
hg1744696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6106
Supporting Variants
SamplesNA12156
Known GenesCSGALNACT1
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)nssv8471
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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