A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235100



Internal ID21682609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76571684..76571684hg38UCSC Ensembl
chr11:76282728..76282728hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722064
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)nssv17235100
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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