A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5921844



Internal ID22697068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3555780..3555943hg38UCSC Ensembl
chr12:3664946..3665109hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361252
Samples
Known GenesPRMT8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5921844
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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