A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715530



Internal ID21741851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178093390..178093390hg38UCSC Ensembl
chr2:178958117..178958117hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247532, nssv17243700
Samples
Known GenesPDE11A
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)nsv5715530
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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