A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238214



Internal ID21685723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:51966922..51966922hg38UCSC Ensembl
chr15:52259119..52259119hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723889
Supporting Variants
Samples
Known GenesLEO1
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)nssv17238214
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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