A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6491767



Internal ID21149320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132850123..132863083hg38UCSC Ensembl
chr12:133426709..133439669hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3812961
hg1912961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177193
Samples
Known GenesCHFR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6491767
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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