A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551847



Internal ID325269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23203459..23203459hg38UCSC Ensembl
chr14:23672668..23672668hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693960
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551847
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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