A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235555



Internal ID21683064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:15414125..15414125hg38UCSC Ensembl
chr6:15414356..15414356hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721170
Supporting Variants
Samples
Known GenesJARID2
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)nssv17235555
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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