A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447601



Internal ID225899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217289765..217289983hg38UCSC Ensembl
chr1:217463107..217463325hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896721
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447601
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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