A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5395465



Internal ID174888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200489345..200489396hg38UCSC Ensembl
chr2:201354068..201354119hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922836
Samples
Known GenesKCTD18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5395465
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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