A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943747



Internal ID22719200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118786511..118793138hg38UCSC Ensembl
chr12:119224316..119230943hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg386628
hg196628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353810
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943747
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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