A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244114



Internal ID21691623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119155339..119155339hg38UCSC Ensembl
chr11:119026049..119026049hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714953
Supporting Variants
Samples
Known GenesABCG4
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17244114
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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