A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446204



Internal ID224532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32092987..32446811hg38UCSC Ensembl
chr2:32318056..32671879hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38353825
hg19353824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911381
Samples
Known GenesBIRC6, NLRC4, SLC30A6, SPAST, YIPF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446204
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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