A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23152



Internal ID15486420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136534..2147382hg38UCSC Ensembl
Outerchr12:2129680..2147852hg38UCSC Ensembl
Innerchr12:2245700..2256548hg19UCSC Ensembl
Outerchr12:2238846..2257018hg19UCSC Ensembl
Innerchr12:2115961..2126809hg18UCSC Ensembl
Outerchr12:2109107..2127279hg18UCSC Ensembl
Innerchr12:2115961..2126809hg17UCSC Ensembl
Outerchr12:2109107..2127279hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3818173
hg1918173
hg1818173
hg1718173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8889
Supporting Variants
SamplesNA18502
Known GenesCACNA1C
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)nssv23152
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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