A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710407



Internal ID21736728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:104057456..104057456hg38UCSC Ensembl
chr10:105817214..105817214hg19UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17189664, nssv17221046
Samples
Known GenesCOL17A1
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)nsv5710407
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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