A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558036



Internal ID331112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73449146..73449197hg38UCSC Ensembl
chr11:73160191..73160242hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048323
Samples
Known GenesFAM168A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558036
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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