A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18144240



Internal ID20711280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46599341..46599837hg38UCSC Ensembl
chr6:46567078..46567574hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6397743
Supporting Variants
Samples
Known GenesCYP39A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18144240
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00073


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