A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5922790



Internal ID22698015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24889970..24891298hg38UCSC Ensembl
chr12:25042904..25044232hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381329
hg191329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355739
Samples
Known GenesBCAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5922790
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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