A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728130



Internal ID21754451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:64079952..64079952hg38UCSC Ensembl
chr15:64372151..64372151hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg381285
hg191285
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240199
Samples
Known GenesFAM96A
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)nsv5728130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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