A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048216



Internal ID18790747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2138266..2148742hg38UCSC Ensembl
Innerchr12:2247432..2257908hg19UCSC Ensembl
Innerchr12:2117693..2128169hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3810477
hg1910477
hg1810477
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1340n100
Supporting Variantsnssv3507408, nssv3708074, nssv3519233, nssv3513312
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)nsv1048216
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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