A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29012



Internal ID15828936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196222818..196224351hg38UCSC Ensembl
Outerchr3:196222152..196225301hg38UCSC Ensembl
Innerchr3:195949689..195951222hg19UCSC Ensembl
Outerchr3:195949023..195952172hg19UCSC Ensembl
Innerchr3:197434086..197435619hg18UCSC Ensembl
Outerchr3:197433420..197436569hg18UCSC Ensembl
Innerchr3:197437999..197439532hg17UCSC Ensembl
Outerchr3:197437333..197440482hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383150
hg193150
hg183150
hg173150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10387
Supporting Variants
SamplesNA10847
Known GenesSLC51A
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)nssv29012
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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