A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722909



Internal ID21749230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240958119..240958119hg38UCSC Ensembl
chr2:241897536..241897536hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234975
Samples
Known GenesLOC200772
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)nsv5722909
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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