A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424408



Internal ID203401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23295608..23295659hg38UCSC Ensembl
chr14:23764817..23764868hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693968
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424408
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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