A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714885



Internal ID21741206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210199799..210199799hg38UCSC Ensembl
chr2:211064523..211064523hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237958
Samples
Known GenesACADL
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)nsv5714885
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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