A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720996



Internal ID21747317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48079804..48079804hg38UCSC Ensembl
chr3:48121294..48121294hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381311
hg191311
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236910
Samples
Known GenesMAP4
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)nsv5720996
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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