A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220516



Internal ID20787556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55100101..55101900hg38UCSC Ensembl
chr8:56012661..56014460hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6428688
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220516
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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