A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548221



Internal ID321996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75763434..75763434hg38UCSC Ensembl
chr11:75474479..75474479hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048497
Samples
Known GenesLOC283214
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548221
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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