A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433921



Internal ID212616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53582253..53586021hg38UCSC Ensembl
chr3:53616280..53620048hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg383769
hg193769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933860
Samples
Known GenesCACNA1D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433921
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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