A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17542991



Internal ID21867346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124746259..124770878hg38UCSC Ensembl
chr3:124465106..124489725hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3824620
hg1924620
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6100823
Supporting Variants
Samples
Known GenesITGB5, UMPS
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17542991
Frequency
Sample Size405
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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