A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6542203



Internal ID20915467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63391500..63409456hg38UCSC Ensembl
chr20:62022853..62040809hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3817957
hg1917957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203436
Samples
Known GenesKCNQ2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6542203
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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