A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443130



Internal ID221533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176341352..176341550hg38UCSC Ensembl
chr2:177206080..177206278hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922559
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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