A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535837



Internal ID311420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175818483..175818483hg38UCSC Ensembl
chr2:176683211..176683211hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922400
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535837
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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