A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507927



Internal ID284632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9418000..9429650hg38UCSC Ensembl
chr12:9570596..9582246hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3811651
hg1911651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv99n206
Supporting Variantsnssv17052805
Samples
Known GenesDDX12P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507927
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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