A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942668



Internal ID22718109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93541987..93542080hg38UCSC Ensembl
chr12:93935763..93935856hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363461
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942668
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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