A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220119



Internal ID20787159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94243501..94390300hg38UCSC Ensembl
chr8:95255729..95402528hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38146800
hg19146800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6432714
Supporting Variants
Samples
Known GenesGEM, RAD54B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220119
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00069


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