A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729711



Internal ID21756032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63485480..63485480hg38UCSC Ensembl
chr17:61562841..61562841hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236750, nssv17235575
Samples
Known GenesACE
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)nsv5729711
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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