A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716972



Internal ID21743293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:101998310..101998310hg38UCSC Ensembl
chr10:103758067..103758067hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg381236
hg191236
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239778, nssv17249477
Samples
Known GenesC10orf76
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)nsv5716972
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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