A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507875



Internal ID284582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2437273..2437878hg38UCSC Ensembl
chr12:2546439..2547044hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054863
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507875
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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