A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947465



Internal ID22722971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79491456..79493920hg38UCSC Ensembl
chr12:79885236..79887700hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg382465
hg192465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363773
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947465
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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