A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16946045



Internal ID31378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197117942..197118549hg38UCSC Ensembl
chr3:196844813..196845420hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452093
Supporting Variants
Samples
Known GenesDLG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16946045
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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