A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508843



Internal ID285521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102239370..102239438hg38UCSC Ensembl
chr14:102705707..102705775hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698337
Samples
Known GenesMOK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508843
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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