A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939018



Internal ID22714406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70304219..70304291hg38UCSC Ensembl
chr12:70697999..70698071hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354005
Samples
Known GenesCNOT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939018
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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