A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18231089



Internal ID20798129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94655728..94656206hg38UCSC Ensembl
chr8:95667956..95668434hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6418708
Supporting Variants
Samples
Known GenesESRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18231089
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00043


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