A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429499



Internal ID208347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75032863..75032863hg38UCSC Ensembl
chr14:75499566..75499566hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699328
Samples
Known GenesMLH3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429499
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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