A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20959



Internal ID15490364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19153891..19153910hg38UCSC Ensembl
Outerchr17:19152946..19154827hg38UCSC Ensembl
Innerchr17:19057204..19057223hg19UCSC Ensembl
Outerchr17:19056259..19058140hg19UCSC Ensembl
Innerchr17:18997929..18997948hg18UCSC Ensembl
Outerchr17:18996984..18998865hg18UCSC Ensembl
Innerchr17:18997929..18997948hg17UCSC Ensembl
Outerchr17:18996984..18998865hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381882
hg191882
hg181882
hg171882
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA18572
Known GenesGRAPL
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)nssv20959
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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