A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504575



Internal ID281375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:851053..1088020hg38UCSC Ensembl
chr11:851053..1086009hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38236968
hg19234957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17041945
Samples
Known GenesAP2A2, CHID1, MUC2, MUC6, TSPAN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504575
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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