A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244474



Internal ID21691983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69213578..69213578hg38UCSC Ensembl
chr10:70973334..70973334hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381212
hg191212
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720308
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)nssv17244474
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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