A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185231



Internal ID20752271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45730701..45735800hg38UCSC Ensembl
chr12:46124484..46129583hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460637
Supporting Variants
Samples
Known GenesARID2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185231
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00117


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