A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200454



Internal ID20767494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152664892..152687719hg38UCSC Ensembl
chr1:152637368..152660195hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3822828
hg1922828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333773
Supporting Variants
Samples
Known GenesLCE2B, LCE2C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200454
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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