A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716280



Internal ID21742601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56635287..56635287hg38UCSC Ensembl
chr1:57100960..57100960hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237254, nssv17234335
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)nsv5716280
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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