A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240199



Internal ID21687708
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 StatusS
Merged Variantsnsv5728130
Supporting Variants
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)nssv17240199
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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