A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17118



Internal ID15490043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7254210..7343932hg38UCSC Ensembl
Outerchr8:7253353..7347866hg38UCSC Ensembl
Innerchr8:7111732..7201454hg19UCSC Ensembl
Outerchr8:7110875..7205388hg19UCSC Ensembl
Innerchr8:7099142..7188864hg18UCSC Ensembl
Outerchr8:7098285..7192798hg18UCSC Ensembl
Innerchr8:7099142..7188864hg17UCSC Ensembl
Outerchr8:7098285..7192798hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3894514
hg1994514
hg1894514
hg1794514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18564
Known GenesDEFB109P1B, FAM66B, LINC00965, USP17L1P, USP17L4
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)nssv17118
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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