A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456424



Internal ID234492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:180348901..180353262hg38UCSC Ensembl
chr4:181270054..181274415hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg384362
hg194362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16959628
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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