A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359284



Internal ID22584953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100253706..100258681hg38UCSC Ensembl
chr12:100647484..100652459hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg384976
hg194976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929947
Supporting Variants
Samples
Known GenesDEPDC4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359284
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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