A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16934040



Internal ID23424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:68975462..68975517hg38UCSC Ensembl
chr3:69024613..69024668hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444330
Supporting Variants
Samples
Known GenesEOGT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16934040
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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