A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17995687



Internal ID20562727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104137301..104140100hg38UCSC Ensembl
chr12:104531079..104533878hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6469358
Supporting Variants
Samples
Known GenesNFYB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17995687
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0184


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