A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711785



Internal ID21738106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58042168..58042168hg38UCSC Ensembl
chr19:58553536..58553536hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224168, nssv17203087
Samples
Known GenesZSCAN1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5711785
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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