A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946891



Internal ID22722390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45083633..45083735hg38UCSC Ensembl
chr12:45477416..45477518hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350067
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946891
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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