A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18222821



Internal ID20789861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51389272..51393286hg38UCSC Ensembl
chr8:52301832..52305846hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg384015
hg194015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6419171
Supporting Variants
Samples
Known GenesPXDNL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18222821
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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