A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726484



Internal ID21752805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18359783..18359783hg38UCSC Ensembl
chr17:18263097..18263097hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38859
hg19859
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249962, nssv17242704
Samples
Known GenesSHMT1
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)nsv5726484
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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