A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26785



Internal ID15495432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19150877..19150970hg38UCSC Ensembl
Outerchr17:19150350..19151472hg38UCSC Ensembl
Innerchr17:19054190..19054283hg19UCSC Ensembl
Outerchr17:19053663..19054785hg19UCSC Ensembl
Innerchr17:18994915..18995008hg18UCSC Ensembl
Outerchr17:18994388..18995510hg18UCSC Ensembl
Innerchr17:18994915..18995008hg17UCSC Ensembl
Outerchr17:18994388..18995510hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381123
hg191123
hg181123
hg171123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA19132
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)nssv26785
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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