A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6492169



Internal ID21149722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132837112..132951726hg38UCSC Ensembl
chr12:133413698..133528312hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38114615
hg19114615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185289
Samples
Known GenesCHFR, ZNF605
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6492169
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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