A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18145315



Internal ID20712355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83025743..83027234hg38UCSC Ensembl
chr6:83735462..83736953hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg381492
hg191492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403656
Supporting Variants
Samples
Known GenesUBE3D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18145315
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00217


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