A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18005540



Internal ID20572581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90804801..90807100hg38UCSC Ensembl
chr12:91198578..91200877hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6463367
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18005540
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00209


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