A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730449



Internal ID21756770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241587696..241587696hg38UCSC Ensembl
chr2:242527111..242527111hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381140
hg191140
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245275
Samples
Known GenesTHAP4
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)nsv5730449
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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