A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18235517



Internal ID20802557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:89978501..90006300hg38UCSC Ensembl
chr8:90990729..91018528hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3827800
hg1927800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6420902
Supporting Variants
Samples
Known GenesDECR1, NBN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18235517
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00059


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