A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887494



Internal ID22662486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192263809..193558335hg38UCSC Ensembl
chr1:192232939..193527465hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg381294527
hg191294527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363496
Samples
Known GenesB3GALT2, CDC73, GLRX2, MIR1278, RGS1, RGS13, RGS2, RGS21, TROVE2, UCHL5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887494
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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