A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249152



Internal ID21696661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116743313..116743313hg38UCSC Ensembl
chr8:117755552..117755552hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716178
Supporting Variants
Samples
Known GenesEIF3H
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)nssv17249152
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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