A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434030



Internal ID212720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157445477..157454156hg38UCSC Ensembl
chr2:158301989..158310668hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg388680
hg198680
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921601
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434030
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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