A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242003



Internal ID21689512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26530702..26530702hg38UCSC Ensembl
chr22:26926668..26926668hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718377
Supporting Variants
Samples
Known GenesTPST2
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)nssv17242003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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