A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409292



Internal ID188613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4422833..4422884hg38UCSC Ensembl
chr4:4424560..4424611hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16945325
Samples
Known GenesSTX18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5409292
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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