A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5916198



Internal ID22691417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24857320..24863832hg38UCSC Ensembl
chr12:25010254..25016766hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386513
hg196513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354002
Samples
Known GenesBCAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5916198
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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