A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448165



Internal ID226446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48459424..48459999hg38UCSC Ensembl
chr3:48500823..48501398hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932706
Samples
Known GenesATRIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448165
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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