A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724074



Internal ID21750395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201014416..201014416hg38UCSC Ensembl
chr2:201879139..201879139hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381292
hg191292
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243834
Samples
Known GenesFAM126B
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)nsv5724074
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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