A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730404



Internal ID21756725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215946376..215946376hg38UCSC Ensembl
chr2:216811099..216811099hg19UCSC Ensembl
Cytoband2q35
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 Variantsnssv17241578
Samples
Known GenesMREG
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)nsv5730404
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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