A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236990



Internal ID21684499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104927574..104927574hg38UCSC Ensembl
chr14:105393911..105393911hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38456
hg19456
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727765
Supporting Variants
Samples
Known GenesPLD4
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)nssv17236990
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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