A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722196



Internal ID21748517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64985543..64985543hg38UCSC Ensembl
chr14:65452261..65452261hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246961
Samples
Known GenesCHURC1-FNTB
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)nsv5722196
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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