A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393045



Internal ID22450915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6049842..6049942hg38UCSC Ensembl
chr20:6030488..6030588hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932149
Supporting Variants
Samples
Known GenesLRRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393045
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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