A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699352



Internal ID123018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77349110..77355197hg38UCSC Ensembl
chr14:77815453..77821540hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg386088
hg196088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499735
Supporting Variants
Samples
Known GenesTMED8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699352
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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