A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15935



Internal ID15482492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7252346..7422946hg38UCSC Ensembl
Outerchr8:7247495..7424424hg38UCSC Ensembl
Innerchr8:7109868..7280468hg19UCSC Ensembl
Outerchr8:7105017..7281946hg19UCSC Ensembl
Innerchr8:7097278..7267878hg18UCSC Ensembl
Outerchr8:7092427..7269356hg18UCSC Ensembl
Innerchr8:7097278..7267878hg17UCSC Ensembl
Outerchr8:7092427..7269356hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38176930
hg19176930
hg18176930
hg17176930
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA10847
Known GenesDEFB109P1B, DEFB4B, FAM66B, LINC00965, USP17L1P, USP17L4, ZNF705G
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv15935
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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