A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722957



Internal ID21749278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:121718389..121718389hg38UCSC Ensembl
chr10:123477903..123477903hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38659
hg19659
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245302, nssv17234377
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)nsv5722957
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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