A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478860



Internal ID21136413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123455237..123461105hg38UCSC Ensembl
chr12:123939784..123945652hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385869
hg195869
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191266
Samples
Known GenesSNRNP35
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478860
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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