A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506595



Internal ID283337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72525469..72533974hg38UCSC Ensembl
chr14:72992177..73000682hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg388506
hg198506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696041
Samples
Known GenesRGS6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506595
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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