A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696038



Internal ID119704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72444757..72444882hg38UCSC Ensembl
chr14:72911465..72911590hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504801
Supporting Variants
Samples
Known GenesRGS6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696038
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.807964


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