A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513160



Internal ID289692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24608450..24608515hg38UCSC Ensembl
chr14:25077656..25077721hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693451
Samples
Known GenesGZMH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513160
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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