A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501931



Internal ID278814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75847064..76036774hg38UCSC Ensembl
chr11:75558109..75747818hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38189711
hg19189710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048503
Samples
Known GenesUVRAG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501931
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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