A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697004



Internal ID120670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:38440927..38443443hg38UCSC Ensembl
chr14:38910131..38912647hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg382517
hg192517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499443
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697004
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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