A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16931080



Internal ID21469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23948461..23948554hg38UCSC Ensembl
chr3:23989952..23990045hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447873
Supporting Variants
Samples
Known GenesNR1D2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16931080
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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