A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947190



Internal ID22722692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108872302..108872873hg38UCSC Ensembl
chr12:109266078..109266649hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359840
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947190
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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