A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722219



Internal ID21748540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36557200..36557200hg38UCSC Ensembl
chr2:36784343..36784343hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239494
Samples
Known GenesFEZ2
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)nsv5722219
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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