A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243356



Internal ID21690865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:36126419..36126419hg38UCSC Ensembl
chr19:36617321..36617321hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38884
hg19884
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729478
Supporting Variants
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)nssv17243356
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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