A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185779



Internal ID20752819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56349859..56365384hg38UCSC Ensembl
chr12:56743643..56759168hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3815526
hg1915526
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6455606
Supporting Variants
Samples
Known GenesAPOF, STAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185779
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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