A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12072



Internal ID15832846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:116551989..116552945hg38UCSC Ensembl
Outerchr3:116551557..116553428hg38UCSC Ensembl
Innerchr3:116270836..116271792hg19UCSC Ensembl
Outerchr3:116270404..116272275hg19UCSC Ensembl
Innerchr3:117753526..117754482hg18UCSC Ensembl
Outerchr3:117753094..117754965hg18UCSC Ensembl
Innerchr3:117753526..117754482hg17UCSC Ensembl
Outerchr3:117753094..117754965hg17UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg381872
hg191872
hg181872
hg171872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10309
Supporting Variants
SamplesNA18502
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)nssv12072
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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