A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724541



Internal ID21750862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12612220..12612220hg38UCSC Ensembl
chr19:12723034..12723034hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252733
Samples
Known GenesZNF791
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)nsv5724541
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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