A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499619



Internal ID276584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55663637..56017713hg38UCSC Ensembl
chr14:56130355..56484431hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38354077
hg19354077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696354
Samples
Known GenesKTN1, LINC00520, RPL13AP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499619
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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