A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236430



Internal ID21683939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18566808..18566808hg38UCSC Ensembl
chr19:18677618..18677618hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38599
hg19599
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722033
Supporting Variants
Samples
Known GenesKXD1
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)nssv17236430
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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