A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488113



Internal ID21145666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121255636..121316711hg38UCSC Ensembl
chr12:121693439..121754514hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3861076
hg1961076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177348
Samples
Known GenesANAPC5, CAMKK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488113
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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