A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718128



Internal ID21744449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26936003..26936003hg38UCSC Ensembl
chr12:27088936..27088936hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249771
Samples
Known GenesASUN
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)nsv5718128
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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