A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235224



Internal ID21682733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5832354..5832354hg38UCSC Ensembl
chr19:5832365..5832365hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730548
Supporting Variants
Samples
Known GenesFUT6
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)nssv17235224
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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