A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200748



Internal ID20767788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143539401..143620800hg38UCSC Ensembl
chr1:149034063..149115461hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3881400
hg1981399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333484
Supporting Variants
Samples
Known GenesLOC101929780
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200748
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.028


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