A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505821



Internal ID282585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111211824..111340844hg38UCSC Ensembl
chr11:111082548..111211569hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38129021
hg19129022
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17050194
Samples
Known GenesC11orf53, COLCA1, COLCA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505821
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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