A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507046



Internal ID283776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63471637..63635175hg38UCSC Ensembl
chr14:63938355..64101893hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38163539
hg19163539
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698132
Samples
Known GenesPPP2R5E, WDR89
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507046
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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