A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728283



Internal ID21754604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:105445077..105445077hg38UCSC Ensembl
chr6:105892952..105892952hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248371
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)nsv5728283
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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