A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920468



Internal ID14427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148918131..148918182hg38UCSC Ensembl
chr2:149675700..149675751hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402216
Supporting Variants
Samples
Known GenesKIF5C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920468
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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