A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730506



Internal ID21756827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60633047..60633047hg38UCSC Ensembl
chr8:61545606..61545606hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381146
hg191146
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242274
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)nsv5730506
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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