A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12653



Internal ID15492539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2367837..2368406hg38UCSC Ensembl
Outerchr3:2367046..2369251hg38UCSC Ensembl
Innerchr3:2409521..2410090hg19UCSC Ensembl
Outerchr3:2408730..2410935hg19UCSC Ensembl
Innerchr3:2384521..2385090hg18UCSC Ensembl
Outerchr3:2383730..2385935hg18UCSC Ensembl
Innerchr3:2384521..2385090hg17UCSC Ensembl
Outerchr3:2383730..2385935hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg382206
hg192206
hg182206
hg172206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10245
Supporting Variants
SamplesNA18972
Known GenesCNTN4
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)nssv12653
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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