A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17356191



Internal ID22581860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3452388..3457975hg38UCSC Ensembl
chr12:3561554..3567141hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg385588
hg195588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5917723
Supporting Variants
Samples
Known GenesPRMT8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17356191
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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