A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548638



Internal ID322370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76545460..76545469hg38UCSC Ensembl
chr11:76256504..76256513hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048549
Samples
Known GenesC11orf30
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548638
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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