A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244999



Internal ID21692508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:303210..303210hg38UCSC Ensembl
chr20:283854..283854hg19UCSC 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 Variantsnsv5721606
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)nssv17244999
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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