A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553533



Internal ID326770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68898118..68898120hg38UCSC Ensembl
chr1:69363801..69363803hg19UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904019
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553533
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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