A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506591



Internal ID283334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73289408..73291767hg38UCSC Ensembl
chr11:73000453..73002812hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg382360
hg192360
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048318
Samples
Known GenesP2RY6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506591
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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