A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20490



Internal ID15843485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7002750..7019944hg38UCSC Ensembl
Outerchr8:7002724..7020356hg38UCSC Ensembl
Innerchr8:6860272..6877466hg19UCSC Ensembl
Outerchr8:6860246..6877878hg19UCSC Ensembl
Innerchr8:6847682..6864876hg18UCSC Ensembl
Outerchr8:6847656..6865288hg18UCSC Ensembl
Innerchr8:6847682..6864876hg17UCSC Ensembl
Outerchr8:6847656..6865288hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3817633
hg1917633
hg1817633
hg1717633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8278
Supporting Variants
SamplesNA19221
Known GenesDEFA1, DEFA1B, DEFA3, DEFT1P, DEFT1P2
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)nssv20490
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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