A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5120



Internal ID15197448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:98907406..98952335hg38UCSC Ensembl
Outerchr8:99919634..99964563hg19UCSC Ensembl
Outerchr8:99988810..100033739hg18UCSC Ensembl
Outerchr8:99988810..100033739hg17UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3844930
hg1944930
hg1844930
hg1744930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327
Supporting Variants
SamplesNA19129
Known GenesOSR2, STK3
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)nssv5120
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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