A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5932547



Internal ID22707847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120432647..120451472hg38UCSC Ensembl
chr12:120870450..120889275hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3818826
hg1918826
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350401
Samples
Known GenesCOX6A1, GATC, TRIAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5932547
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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