A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453303



Internal ID231429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158548494..158548644hg38UCSC Ensembl
chr2:159405006..159405156hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730038
Samples
Known GenesPKP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453303
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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