A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248422



Internal ID21695931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:303223..303223hg38UCSC Ensembl
chr20:283867..283867hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721939
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17248422
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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