A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440002



Internal ID218526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148915544..148915666hg38UCSC Ensembl
chr2:149673113..149673235hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920467
Samples
Known GenesKIF5C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440002
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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