A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427248



Internal ID22485118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170489079..170489454hg38UCSC Ensembl
chr5:169916083..169916458hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887597
Supporting Variants
Samples
Known GenesKCNIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427248
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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