A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506584



Internal ID283328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100245171..100253779hg38UCSC Ensembl
chr14:100711508..100720116hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg388609
hg198609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698785
Samples
Known GenesYY1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506584
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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