A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716424



Internal ID21742745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29758486..29758486hg38UCSC Ensembl
chr22:30154475..30154475hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235221
Samples
Known GenesZMAT5
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)nsv5716424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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