A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501616



Internal ID278510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:95832657..95833957hg38UCSC Ensembl
chr11:95565821..95567121hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17049257
Samples
Known GenesCEP57, MTMR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501616
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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