A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251979



Internal ID21699488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:65126601..65126601hg38UCSC Ensembl
chr15:65418939..65418939hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38457
hg19457
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721720
Supporting Variants
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)nssv17251979
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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