A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18223575



Internal ID20790616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19449144..19672192hg38UCSC Ensembl
chr8:19306655..19529703hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38223049
hg19223049
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6435401
Supporting Variants
Samples
Known GenesCSGALNACT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18223575
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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