A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442622



Internal ID221044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229143032..229164995hg38UCSC Ensembl
chr1:229278779..229300742hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3821964
hg1921964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898296
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442622
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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