A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192796



Internal ID20759836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48633901..48753100hg38UCSC Ensembl
chr12:49027684..49146883hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38119200
hg19119200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458765
Supporting Variants
Samples
Known GenesCCNT1, KANSL2, LINC00935, MIR1291, SNORA2A, SNORA2B, SNORA34
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192796
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02601


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