A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26372



Internal ID15844412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60003189..60020434hg38UCSC Ensembl
Outerchr17:60002302..60021191hg38UCSC Ensembl
Innerchr17:58080550..58097795hg19UCSC Ensembl
Outerchr17:58079663..58098552hg19UCSC Ensembl
Innerchr17:55435332..55452577hg18UCSC Ensembl
Outerchr17:55434445..55453334hg18UCSC Ensembl
Innerchr17:55435332..55452577hg17UCSC Ensembl
Outerchr17:55434445..55453334hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3818890
hg1918890
hg1818890
hg1718890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9578
Supporting Variants
SamplesNA19240
Known GenesTBC1D3P1-DHX40P1
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)nssv26372
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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