A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243187



Internal ID21690696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38773125..38773125hg38UCSC Ensembl
chr22:39169130..39169130hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724647
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)nssv17243187
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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