A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496946



Internal ID274009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:93386119..93386202hg38UCSC Ensembl
chr11:93119285..93119368hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052061
Samples
Known GenesCCDC67
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496946
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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