A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508553



Internal ID285240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:12846992..12847054hg38UCSC Ensembl
chr11:12868539..12868601hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042917
Samples
Known GenesTEAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508553
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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