A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16580



Internal ID15490837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7254210..7352241hg38UCSC Ensembl
Outerchr8:7253353..7352356hg38UCSC Ensembl
Innerchr8:7111732..7209763hg19UCSC Ensembl
Outerchr8:7110875..7209878hg19UCSC Ensembl
Innerchr8:7099142..7197173hg18UCSC Ensembl
Outerchr8:7098285..7197288hg18UCSC Ensembl
Innerchr8:7099142..7197173hg17UCSC Ensembl
Outerchr8:7098285..7197288hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3899004
hg1999004
hg1899004
hg1799004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18853
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)nssv16580
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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