A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202817



Internal ID20769857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248859391..248926268hg38UCSC Ensembl
chr1:249153590..249220467hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3866878
hg1966878
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6324350
Supporting Variants
Samples
Known GenesPGBD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202817
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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