A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979781



Internal ID22754716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92428657..92428657hg38UCSC Ensembl
chr12:92822433..92822433hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367285
Samples
Known GenesCLLU1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979781
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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