A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18166143



Internal ID20733183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28176281..28177367hg38UCSC Ensembl
chr8:28033798..28034884hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6425946
Supporting Variants
Samples
Known GenesELP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18166143
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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