A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202170



Internal ID20769210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:12459836..14234108hg38UCSC Ensembl
chr20:12440484..14214754hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg381774273
hg191774271
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6528808
Supporting Variants
Samples
Known GenesESF1, ISM1, ISM1-AS1, MACROD2, NDUFAF5, SEL1L2, SPTLC3, TASP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202170
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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