A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200089



Internal ID20767129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13310832..13555121hg38UCSC Ensembl
chr1:13637224..13881616hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38244290
hg19244393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317139
Supporting Variants
Samples
Known GenesLRRC38, PRAMEF15, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21, PRAMEF9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200089
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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