A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202313



Internal ID20769353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197348801..197354800hg38UCSC Ensembl
chr1:197317931..197323930hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6315787
Supporting Variants
Samples
Known GenesCRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202313
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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