A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934341



Internal ID22709665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55832069..55833939hg38UCSC Ensembl
chr12:56225853..56227723hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381871
hg191871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355293
Samples
Known GenesTMEM198B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934341
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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