A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6455606



Internal ID21113159
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 StatusM
Merged Variants
Supporting Variantsnssv18185779
Samples
Known GenesAPOF, STAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6455606
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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