A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547294



Internal ID321159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158678836..158678885hg38UCSC Ensembl
chr2:159535348..159535397hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920204
Samples
Known GenesPKP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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