A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695542



Internal ID21721863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:123001415..123001415hg38UCSC Ensembl
chr10:124760931..124760931hg19UCSC Ensembl
Cytoband10q26.13
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 Variantsnssv17189355, nssv17225321
Samples
Known GenesIKZF5
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)nsv5695542
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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