A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6525978



Internal ID20899339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21033639..22376670hg38UCSC Ensembl
chr20:21014280..22357308hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg381343032
hg191343029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203212
Samples
Known GenesLOC100270679, NKX2-2, NKX2-4, PAX1, PLK1S1, XRN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6525978
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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