A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933820



Internal ID22709137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78804642..78804811hg38UCSC Ensembl
chr12:79198422..79198591hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366828
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933820
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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