A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485291



Internal ID21142844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116270701..116277100hg38UCSC Ensembl
chr12:116708506..116714905hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg386400
hg196400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188637
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485291
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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