A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19704



Internal ID15493225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136534..2147852hg38UCSC Ensembl
Outerchr12:2129680..2148975hg38UCSC Ensembl
Innerchr12:2245700..2257018hg19UCSC Ensembl
Outerchr12:2238846..2258141hg19UCSC Ensembl
Innerchr12:2115961..2127279hg18UCSC Ensembl
Outerchr12:2109107..2128402hg18UCSC Ensembl
Innerchr12:2115961..2127279hg17UCSC Ensembl
Outerchr12:2109107..2128402hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3819296
hg1919296
hg1819296
hg1719296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8889
Supporting Variants
SamplesNA18975
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)nssv19704
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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