A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721768



Internal ID21748089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228380301..228380301hg38UCSC Ensembl
chr2:229245017..229245017hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38884
hg19884
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241367, nssv17241657
Samples
Known Genes
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)nsv5721768
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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