A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243700



Internal ID21691209
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 StatusS
Merged Variantsnsv5715530
Supporting Variants
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)nssv17243700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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