A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555382



Internal ID328539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119155339..119155390hg38UCSC Ensembl
chr11:119026049..119026100hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052233
Samples
Known GenesABCG4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555382
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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