A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202466



Internal ID20769506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236136407..236268376hg38UCSC Ensembl
chr1:236299707..236431676hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38131970
hg19131970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327740
Supporting Variants
Samples
Known GenesERO1LB, GPR137B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202466
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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