A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5069



Internal ID15196127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:28350160..28395027hg38UCSC Ensembl
Outerchr8:28207677..28252544hg19UCSC Ensembl
Outerchr8:28263596..28308463hg18UCSC Ensembl
Outerchr8:28263596..28308463hg17UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3844868
hg1944868
hg1844868
hg1744868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6135
Supporting Variants
SamplesNA19129
Known GenesZNF395
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)nssv5069
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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