A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695498



Internal ID119164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30069419..30077614hg38UCSC Ensembl
chr14:30538625..30546820hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg388196
hg198196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508766
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695498
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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