A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17188573



Internal ID21636082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:58681437..58681437hg38UCSC Ensembl
chr10:60441197..60441197hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5694406
Supporting Variants
Samples
Known GenesBICC1
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)nssv17188573
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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