A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697813



Internal ID121479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68935880..68936013hg38UCSC Ensembl
chr14:69402597..69402730hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498523
Supporting Variants
Samples
Known GenesACTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697813
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.076803


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