A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715669



Internal ID21741990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:99476869..99476869hg38UCSC Ensembl
chr1:99942425..99942425hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg381166
hg191166
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237047, nssv17243963
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)nsv5715669
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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