A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939832



Internal ID22715231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124888616..124891917hg38UCSC Ensembl
chr12:125373162..125376463hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383302
hg193302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366703
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939832
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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