A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943229



Internal ID29469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:175191503..175192600hg38UCSC Ensembl
chr3:174909293..174910390hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381098
hg191098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441116
Supporting Variants
Samples
Known GenesNAALADL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943229
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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