A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6529546



Internal ID20902907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3191107..3407325hg38UCSC Ensembl
chr20:3171753..3387972hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38216219
hg19216220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203266
Samples
Known GenesC20orf194, DDRGK1, ITPA, SLC4A11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6529546
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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