A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17418684



Internal ID22476554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:20106990..20106990hg38UCSC Ensembl
chr3:20148482..20148482hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5960495
Supporting Variants
Samples
Known GenesKAT2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17418684
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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