A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931988



Internal ID22707280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47306648..47306766hg38UCSC Ensembl
chr12:47700431..47700549hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364733
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931988
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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