A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722699



Internal ID21749020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87866151..87866151hg38UCSC Ensembl
chr4:88787303..88787303hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38528
hg19528
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247515
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)nsv5722699
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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