A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18055554



Internal ID20622594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193044601..193045100hg38UCSC Ensembl
chr1:193013731..193014230hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330679
Supporting Variants
Samples
Known GenesUCHL5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18055554
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0004


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