A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17548347



Internal ID21872702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79270560..79270560hg38UCSC Ensembl
chr5:78566383..78566383hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6061050
Supporting Variants
Samples
Known GenesJMY
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17548347
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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