A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939465



Internal ID27024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122011304..122012534hg38UCSC Ensembl
chr3:121730151..121731381hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381231
hg191231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450757
Supporting Variants
Samples
Known GenesILDR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939465
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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