A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237924



Internal ID21685433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25616808..25616808hg38UCSC Ensembl
chr20:25597444..25597444hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38847
hg19847
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720107
Supporting Variants
Samples
Known GenesNANP
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)nssv17237924
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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