A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715599



Internal ID21741920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6194819..6194819hg38UCSC Ensembl
chr20:6175466..6175466hg19UCSC Ensembl
Cytoband20p12.3
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 Variantsnssv17252204, nssv17243956
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)nsv5715599
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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