A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716105



Internal ID21742426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32214268..32214268hg38UCSC Ensembl
chr19:32705174..32705174hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243181
Samples
Known Genes
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)nsv5716105
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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