A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16934065



Internal ID23440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69330490..69335475hg38UCSC Ensembl
chr3:69379641..69384626hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg384986
hg194986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446490
Supporting Variants
Samples
Known GenesFRMD4B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16934065
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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