A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18053873



Internal ID20620913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172085256..172085803hg38UCSC Ensembl
chr1:172054396..172054943hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38548
hg19548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323131
Supporting Variants
Samples
Known GenesDNM3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18053873
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00056


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