A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512797



Internal ID289343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:44897473..44897528hg38UCSC Ensembl
chr14:45366676..45366731hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695155
Samples
Known GenesC14orf28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512797
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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