A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448988



Internal ID227238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36599309..36605134hg38UCSC Ensembl
chr2:36826452..36832277hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg385826
hg195826
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912175
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448988
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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