A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721206



Internal ID21747527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34546041..34546041hg38UCSC Ensembl
chr21:35918339..35918339hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233727
Samples
Known GenesRCAN1
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)nsv5721206
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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