A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18167920



Internal ID20734960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25902248..25905887hg38UCSC Ensembl
chr8:25759764..25763403hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383640
hg193640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6434665
Supporting Variants
Samples
Known GenesEBF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18167920
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0002


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