A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716187



Internal ID21742508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39511891..39511891hg38UCSC Ensembl
chr5:39511993..39511993hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240947, nssv17242872
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)nsv5716187
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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