A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18221821



Internal ID20788861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48056878..48175558hg38UCSC Ensembl
chr8:48969438..49088118hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38118681
hg19118681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6431775
Supporting Variants
Samples
Known GenesUBE2V2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18221821
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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