A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246715



Internal ID21694224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70866956..70866956hg38UCSC Ensembl
chr6:71576659..71576659hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719478
Supporting Variants
Samples
Known GenesB3GAT2
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)nssv17246715
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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