A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18168970



Internal ID20736010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38597535..38604498hg38UCSC Ensembl
chr8:38455053..38462016hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg386964
hg196964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6424542
Supporting Variants
Samples
Known GenesRNF5P1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18168970
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00046


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