A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719112



Internal ID21745433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43667217..43667217hg38UCSC Ensembl
chr19:44171369..44171369hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249608
Samples
Known GenesPLAUR
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)nsv5719112
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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