A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2792398



Internal ID21237736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2682851..2682851hg38UCSC Ensembl
chr12:2792017..2792017hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381450
hg191450
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13693576, nssv13680270
Samples
Known GenesCACNA1C, CACNA1C-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2792398
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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