A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18004946



Internal ID20571987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90325067..90325700hg38UCSC Ensembl
chr12:90718844..90719477hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38634
hg19634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6455781
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18004946
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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