A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5619949



Internal ID21568254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:113501291..113501291hg38UCSC Ensembl
chr4:114422447..114422447hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17120980
SamplesHG00096
Known GenesCAMK2D
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5619949
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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