A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235378



Internal ID21682887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57479703..57479703hg38UCSC Ensembl
chr14:57946421..57946421hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720188
Supporting Variants
Samples
Known GenesC14orf105
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)nssv17235378
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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