A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722790



Internal ID21749111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28542381..28542381hg38UCSC Ensembl
chr8:28399898..28399898hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38705
hg19705
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247591
Samples
Known GenesFZD3
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)nsv5722790
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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