A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17230577



Internal ID21678086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102778257..102778257hg38UCSC Ensembl
chr11:102648988..102648988hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5706468
Supporting Variants
Samples
Known GenesMMP10
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)nssv17230577
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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