A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18064943



Internal ID20631983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89636497..89637976hg38UCSC Ensembl
chr1:90102056..90103535hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381480
hg191480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325210
Supporting Variants
Samples
Known GenesLRRC8C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18064943
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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