A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440331



Internal ID218840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181039879..181061044hg38UCSC Ensembl
chr1:181009015..181030180hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3821166
hg1921166
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893014
Samples
Known GenesMR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440331
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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