A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722378



Internal ID21748699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41788751..41788751hg38UCSC Ensembl
chr17:39945003..39945003hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245426, nssv17241962
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)nsv5722378
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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