A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8545



Internal ID15188633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:120094910..120139967hg38UCSC Ensembl
Outerchr8:121107149..121152206hg19UCSC Ensembl
Outerchr8:121176330..121221387hg18UCSC Ensembl
Outerchr8:121176330..121221387hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3845058
hg1945058
hg1845058
hg1745058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6364
Supporting Variants
SamplesNA12156
Known GenesCOL14A1
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)nssv8545
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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