A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203212



Internal ID20770252
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 StatusS
Merged Variantsnsv6525978
Supporting Variants
Samples
Known GenesLOC100270679, NKX2-2, NKX2-4, PAX1, PLK1S1, XRN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203212
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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