A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444475



Internal ID222845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:194675702..194808525hg38UCSC Ensembl
chr2:195540426..195673249hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38132824
hg19132824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923572
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444475
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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