A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726562



Internal ID21752883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135945299..135945299hg38UCSC Ensembl
chr2:136702869..136702869hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38784
hg19784
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237168, nssv17242814
Samples
Known GenesDARS
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)nsv5726562
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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