A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050748



Internal ID18793279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136684..2148378hg38UCSC Ensembl
Innerchr12:2245850..2257544hg19UCSC Ensembl
Innerchr12:2116111..2127805hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3811695
hg1911695
hg1811695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1340n100
Supporting Variantsnssv3517266
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050748
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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