A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18172743



Internal ID20739783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91084701..91085800hg38UCSC Ensembl
chr8:92096929..92098028hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6421677
Supporting Variants
Samples
Known GenesOTUD6B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18172743
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00039


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