A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549390



Internal ID323057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:187137809..187137809hg38UCSC Ensembl
chr1:187106941..187106941hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893255
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549390
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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