A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6354134



Internal ID21011687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104852201..104858400hg38UCSC Ensembl
chr2:105468659..105474858hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg386200
hg196200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205808
Samples
Known GenesPOU3F3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6354134
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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