A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16952925



Internal ID35972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:113651381..113855381hg38UCSC Ensembl
chr4:114572537..114776537hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38204001
hg19204001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460550
Supporting Variants
Samples
Known GenesCAMK2D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16952925
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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