A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18165673



Internal ID20732713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132005701..132007800hg38UCSC Ensembl
chr8:133017948..133020047hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6419275
Supporting Variants
Samples
Known GenesEFR3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18165673
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00062


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