A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443782



Internal ID222172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48684094..48684242hg38UCSC Ensembl
chr3:48721527..48721675hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933753
Samples
Known GenesNCKIPSD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443782
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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