A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18055562



Internal ID20622602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193183201..193184600hg38UCSC Ensembl
chr1:193152331..193153730hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330396
Supporting Variants
Samples
Known GenesB3GALT2, CDC73
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18055562
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00212


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