A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412279



Internal ID191581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130165740..130165777hg38UCSC Ensembl
chr5:129501433..129501470hg19UCSC Ensembl
Cytoband5q23.3
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 Variantsnssv16974319
Samples
Known GenesCHSY3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412279
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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