A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939331



Internal ID22714723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104452864..104454122hg38UCSC Ensembl
chr12:104846642..104847900hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350093
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939331
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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