A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412633



Internal ID191935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139648131..139648182hg38UCSC Ensembl
chr4:140569285..140569336hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16958488
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412633
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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