A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17210914



Internal ID21658423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2605730..2605730hg38UCSC Ensembl
chr5:2605844..2605844hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5676559
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17210914
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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