A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242704



Internal ID21690213
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 StatusS
Merged Variantsnsv5726484
Supporting Variants
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)nssv17242704
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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