A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242274



Internal ID21689783
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 StatusS
Merged Variantsnsv5730506
Supporting Variants
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)nssv17242274
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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