A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407451



Internal ID22465321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158548494..158548640hg38UCSC Ensembl
chr2:159405006..159405152hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5900612
Supporting Variants
Samples
Known GenesPKP4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407451
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.049


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