A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406069



Internal ID185410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42452998..42453049hg38UCSC Ensembl
chr1:42918669..42918720hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904838
Samples
Known GenesZMYND12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406069
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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