A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722718



Internal ID21749039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29821730..29821730hg38UCSC Ensembl
chr16:29833051..29833051hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38982
hg19982
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236723
Samples
Known GenesMVP, PAGR1
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)nsv5722718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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