A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17233395



Internal ID21680904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:15579416..15579416hg38UCSC Ensembl
chr5:15579525..15579525hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38509
hg19509
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714509
Supporting Variants
Samples
Known GenesFBXL7
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)nssv17233395
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer