A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6479313



Internal ID21136866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132490761..132578098hg38UCSC Ensembl
chr12:133067347..133154684hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3887338
hg1987338
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188004
Samples
Known GenesFBRSL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6479313
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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