A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17547783



Internal ID21872138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133037342..133044578hg38UCSC Ensembl
chr5:132373034..132380270hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg387237
hg197237
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6001551
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17547783
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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