A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249254



Internal ID21696763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37817186..37817186hg38UCSC Ensembl
chr22:38213193..38213193hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723654
Supporting Variants
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)nssv17249254
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