A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464578



Internal ID21122131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120324101..120342700hg38UCSC Ensembl
chr11:120194810..120213409hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3818600
hg1918600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1325n223
Supporting Variantsnssv18185390
Samples
Known GenesARHGEF12, TMEM136
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464578
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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