A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5588938



Internal ID21537502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3461662..3463034hg38UCSC Ensembl
chr12:3570828..3572200hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381373
hg191373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17086471
SamplesHG03125
Known GenesPRMT8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5588938
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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