A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717148



Internal ID21743469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94585428..94585428hg38UCSC Ensembl
chr8:95597656..95597656hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250447, nssv17238305
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)nsv5717148
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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