A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441970



Internal ID220416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:136513365..136562710hg38UCSC Ensembl
chr2:137270935..137320280hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3849346
hg1949346
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919342
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441970
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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