A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205223



Internal ID20772263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89981001..90003500hg38UCSC Ensembl
chr1:90446560..90469059hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3822500
hg1922500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325138
Supporting Variants
Samples
Known GenesGEMIN8P4, ZNF326
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205223
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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