A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240652



Internal ID21688161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124914159..124914159hg38UCSC Ensembl
chr8:125926401..125926401hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38698
hg19698
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719414
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)nssv17240652
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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