A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12480



Internal ID15497286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:991652..1004148hg38UCSC Ensembl
Outerchr3:990264..1026001hg38UCSC Ensembl
Innerchr3:1033336..1045832hg19UCSC Ensembl
Outerchr3:1031948..1067685hg19UCSC Ensembl
Innerchr3:1008336..1020832hg18UCSC Ensembl
Outerchr3:1006948..1042685hg18UCSC Ensembl
Innerchr3:1008336..1020832hg17UCSC Ensembl
Outerchr3:1006948..1042685hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3835738
hg1935738
hg1835738
hg1735738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10241
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)nssv12480
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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