A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917723



Internal ID22692943
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 StatusM
Merged Variants
Supporting Variantsnssv17356191
Samples
Known GenesPRMT8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917723
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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