A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12688



Internal ID15496117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144020070..144082080hg38UCSC Ensembl
Outerchr4:144019565..144082843hg38UCSC Ensembl
Innerchr4:144941223..145003233hg19UCSC Ensembl
Outerchr4:144940718..145003996hg19UCSC Ensembl
Innerchr4:145160673..145222683hg18UCSC Ensembl
Outerchr4:145160168..145223446hg18UCSC Ensembl
Innerchr4:145298828..145360838hg17UCSC Ensembl
Outerchr4:145298323..145361601hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3863279
hg1963279
hg1863279
hg1763279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10584
Supporting Variants
SamplesNA19144
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)nssv12688
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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