A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928708



Internal ID22703952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129003347..129030447hg38UCSC Ensembl
chr12:129487892..129514992hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3827101
hg1927101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354245
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928708
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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