A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696260



Internal ID119926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52846081..52855858hg38UCSC Ensembl
chr14:53312799..53322576hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg389778
hg199778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511047
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696260
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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