A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722608



Internal ID21748929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210183169..210183169hg38UCSC Ensembl
chr2:211047893..211047893hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235696
Samples
Known Genes
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)nsv5722608
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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