A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16758



Internal ID15836798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:31984722..31985459hg38UCSC Ensembl
Outerchr1:31982684..31986821hg38UCSC Ensembl
Innerchr1:32450323..32451060hg19UCSC Ensembl
Outerchr1:32448285..32452422hg19UCSC Ensembl
Innerchr1:32222910..32223647hg18UCSC Ensembl
Outerchr1:32220872..32225009hg18UCSC Ensembl
Innerchr1:32119416..32120153hg17UCSC Ensembl
Outerchr1:32117378..32121515hg17UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg384138
hg194138
hg184138
hg174138
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10073
Supporting Variants
SamplesNA18564
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)nssv16758
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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