A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514658



Internal ID15466292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136730..2148875hg38UCSC Ensembl
Innerchr12:2245896..2258041hg19UCSC Ensembl
Innerchr12:2116157..2128302hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812146
hg1912146
hg1812146
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2792276, nssv2791452, nssv2790053, nssv2797615, nssv2795056, nssv2798361, nssv2796072, nssv2795671, nssv2794711, nssv2796411, nssv2792390, nssv2797564, nssv2792733, nssv2798109, nssv2790532, nssv2792998, nssv2789327, nssv2788531, nssv2791877, nssv2788735, nssv2797237, nssv2794881, nssv2797895
SamplesNA11881, NA12249, NA12344, NA12347, NA10839, NA07019, NA12383, NA12864, NA10852, NA12348, NA12877, NA12275, NA10856, NA12872, NA10851, NA12375, NA12889, NA10835, NA10830, NA07022, NA11830, NA12236, NA12274
Known GenesCACNA1C
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514658
Frequency
Sample Size2366
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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