A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442245



Internal ID220678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40297000..40319619hg38UCSC Ensembl
chr2:40524140..40546759hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3822620
hg1922620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911555
Samples
Known GenesSLC8A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442245
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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