A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722412



Internal ID21748733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:77490874..77490874hg38UCSC Ensembl
chr15:77783216..77783216hg19UCSC Ensembl
Cytoband15q24.3
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 Variantsnssv17233333, nssv17235692
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)nsv5722412
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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