A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196601



Internal ID20763641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:108590701..108596200hg38UCSC Ensembl
chr11:108461428..108466927hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470307
Supporting Variants
Samples
Known GenesEXPH5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196601
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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