A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697154



Internal ID120820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89805763..89805813hg38UCSC Ensembl
chr14:90272107..90272157hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494091
Supporting Variants
Samples
Known GenesEFCAB11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697154
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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