A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190944



Internal ID20757984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2684949..2741329hg38UCSC Ensembl
chr12:2794115..2850495hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3856381
hg1956381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6456687
Supporting Variants
Samples
Known GenesCACNA1C, CACNA1C-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190944
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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