A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17486098



Internal ID22544011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49471364..49478363hg38UCSC Ensembl
chr20:48087901..48094900hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg387000
hg197000
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882491
Supporting Variants
Samples
Known GenesKCNB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17486098
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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