A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720649



Internal ID21746970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93610478..93610478hg38UCSC Ensembl
chr1:94076035..94076035hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240932
Samples
Known GenesBCAR3
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)nsv5720649
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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