A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729414



Internal ID21755735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63816770..63816770hg38UCSC Ensembl
chr17:61894130..61894130hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246064
Samples
Known GenesDDX42
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)nsv5729414
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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