A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931356



Internal ID22706639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114698759..114698860hg38UCSC Ensembl
chr12:115136564..115136665hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365968
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931356
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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