A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503592



Internal ID280414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:86033407..86033550hg38UCSC Ensembl
chr11:85744449..85744592hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17049621
Samples
Known GenesPICALM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503592
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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