A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6470347



Internal ID21127900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56297696..56345165hg38UCSC Ensembl
chr12:56691480..56738949hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3847470
hg1947470
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188085
Samples
Known GenesCNPY2, CS, IL23A, PAN2, STAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6470347
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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