A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613904



Internal ID21562209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47316774..47316774hg38UCSC Ensembl
chr3:47358264..47358264hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17132779
SamplesNA19239
Known GenesKLHL18
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613904
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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