A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509748



Internal ID286395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9444650..9472650hg38UCSC Ensembl
chr12:9597246..9625246hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3828001
hg1928001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052807
Samples
Known GenesDDX12P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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