A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563729



Internal ID336659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158587603..158587654hg38UCSC Ensembl
chr2:159444115..159444166hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg381448
hg191448
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920201
Samples
Known GenesPKP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563729
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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