A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919643



Internal ID22694865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4205328..4205432hg38UCSC Ensembl
chr12:4314494..4314598hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350098
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919643
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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