A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402216



Internal ID181587
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 StatusM
Merged Variants
Supporting Variantsnssv16920468
Samples
Known GenesKIF5C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402216
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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