A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6353328



Internal ID21010881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229927168..230201825hg38UCSC Ensembl
chr2:230791884..231066541hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38274658
hg19274658
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206176
Samples
Known GenesFBXO36, SLC16A14, SP110
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6353328
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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