A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497001



Internal ID274062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1839745..1875486hg38UCSC Ensembl
chr12:1948911..1984652hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3835742
hg1935742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054830
Samples
Known GenesCACNA2D4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497001
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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