A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699141



Internal ID122807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93903395..93911884hg38UCSC Ensembl
chr14:94369741..94378230hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg388490
hg198490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508625
Supporting Variants
Samples
Known GenesFAM181A-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699141
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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