A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6439



Internal ID15204662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143606519..143651282hg38UCSC Ensembl
Outerchr8:144688689..144733452hg19UCSC Ensembl
Outerchr8:144759832..144804595hg18UCSC Ensembl
Outerchr8:144759832..144804595hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3844764
hg1944764
hg1844764
hg1744764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3698, nssv10647, nssv5139, nssv11200
SamplesNA12878, NA18956, NA15510, NA19129
Known GenesPYCRL, TSTA3, ZNF623
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)nsv6439
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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