A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510360



Internal ID286982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28544507..28595030hg38UCSC Ensembl
chr12:28697440..28747963hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3850524
hg1950524
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055179
Samples
Known GenesCCDC91
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510360
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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