A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441144



Internal ID219626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232378211..232378332hg38UCSC Ensembl
chr1:232513957..232514078hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898576
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441144
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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