A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966



Internal ID15488536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7253353..8034222hg38UCSC Ensembl
Outerchr8:7252346..8035223hg38UCSC Ensembl
Innerchr8:7110875..7891744hg19UCSC Ensembl
Outerchr8:7109868..7892745hg19UCSC Ensembl
Innerchr8:7098285..7929154hg18UCSC Ensembl
Outerchr8:7097278..7930155hg18UCSC Ensembl
Innerchr8:7098285..7929154hg17UCSC Ensembl
Outerchr8:7097278..7930155hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38782878
hg19782878
hg18832878
hg17832878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18552
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, 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)nssv16966
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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