A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730984



Internal ID21757305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11303575..11303575hg38UCSC Ensembl
chr19:11414251..11414251hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249884
Samples
Known GenesTSPAN16
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)nsv5730984
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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