A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16938131



Internal ID26151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124638197..124642716hg38UCSC Ensembl
chr3:124357044..124361563hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg384520
hg194520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439194
Supporting Variants
Samples
Known GenesKALRN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16938131
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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