A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17100



Internal ID15844135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:75621236..75652930hg38UCSC Ensembl
Outerchr1:75619721..75653607hg38UCSC Ensembl
Innerchr1:76086921..76118615hg19UCSC Ensembl
Outerchr1:76085406..76119292hg19UCSC Ensembl
Innerchr1:75859509..75891203hg18UCSC Ensembl
Outerchr1:75857994..75891880hg18UCSC Ensembl
Innerchr1:75798942..75830636hg17UCSC Ensembl
Outerchr1:75797427..75831313hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3833887
hg1933887
hg1833887
hg1733887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10295
Supporting Variants
SamplesNA19221
Known Genes
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)nssv17100
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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