A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234168



Internal ID21681677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65364187..65364187hg38UCSC Ensembl
chr11:65131658..65131658hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728491
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)nssv17234168
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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