A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721720



Internal ID21748041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:65126601..65126601hg38UCSC Ensembl
chr15:65418939..65418939hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg381285
hg191285
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251979, nssv17239221
Samples
Known GenesPDCD7
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)nsv5721720
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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