A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243556



Internal ID21691065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47991200..47991200hg38UCSC Ensembl
chr8:48903760..48903760hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726792
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)nssv17243556
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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