A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721402



Internal ID21747723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30552407..30552407hg38UCSC Ensembl
chr16:30563728..30563728hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381311
hg191311
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240615, nssv17241351
Samples
Known Genes
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)nsv5721402
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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