A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16936627



Internal ID25136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123375531..123376569hg38UCSC Ensembl
chr3:123094378..123095416hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381039
hg191039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452030
Supporting Variants
Samples
Known GenesADCY5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16936627
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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