A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240379



Internal ID21687888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69862678..69862678hg38UCSC Ensembl
chr8:70774913..70774913hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720422
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)nssv17240379
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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