A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941828



Internal ID22717259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56167897..56167950hg38UCSC Ensembl
chr12:56561681..56561734hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17349897
Samples
Known GenesSMARCC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941828
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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