A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946072



Internal ID22721556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124883039..124884271hg38UCSC Ensembl
chr12:125367585..125368817hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381233
hg191233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv461n209
Supporting Variantsnssv17363089
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946072
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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