A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359030



Internal ID22584699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46831860..46831934hg38UCSC Ensembl
chr12:47225643..47225717hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5939440
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359030
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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