A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447492



Internal ID225795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209354706..209407194hg38UCSC Ensembl
chr2:210219430..210271918hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3852489
hg1952489
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928069
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447492
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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