A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703798



Internal ID21730119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119592599..119592599hg38UCSC Ensembl
chr10:121352111..121352111hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17189804
Samples
Known GenesTIAL1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5703798
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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