A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450365



Internal ID228573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211289422..211289520hg38UCSC Ensembl
chr1:211462764..211462862hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895045
Samples
Known GenesRCOR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450365
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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