A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933627



Internal ID22708941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125721103..125721314hg38UCSC Ensembl
chr12:126205649..126205860hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352718
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933627
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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