A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720875



Internal ID21747196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28794691..28794691hg38UCSC Ensembl
chr22:29190679..29190679hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381313
hg191313
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234097
Samples
Known GenesXBP1
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)nsv5720875
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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