A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17428075



Internal ID22485945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114468283..114468335hg38UCSC Ensembl
chr5:113803980..113804032hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895642
Supporting Variants
Samples
Known GenesKCNN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17428075
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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