A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040370



Internal ID18782901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1912229..2561851hg38UCSC Ensembl
Innerchr12:2021395..2671017hg19UCSC Ensembl
Innerchr12:1891656..2541278hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38649623
hg19649623
hg18649623
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3507600
Samples
Known GenesCACNA1C, CACNA1C-AS4, CACNA1C-IT3, CACNA2D4, DCP1B, LINC00940
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040370
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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