A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8478



Internal ID15188700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30146815..30192125hg38UCSC Ensembl
Outerchr8:30004331..30049641hg19UCSC Ensembl
Outerchr8:30123873..30169183hg18UCSC Ensembl
Outerchr8:30123873..30169183hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3845311
hg1945311
hg1845311
hg1745311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139
Supporting Variants
SamplesNA12156
Known GenesDCTN6, MIR548O2
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)nssv8478
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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