A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717501



Internal ID21743822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8247751..8247751hg38UCSC Ensembl
chr19:8312635..8312635hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252980, nssv17240745
Samples
Known GenesCERS4
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)nsv5717501
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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