A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350093



Internal ID22575762
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 StatusS
Merged Variantsnsv5939331
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350093
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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