A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18167707



Internal ID20734747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47906560..47910409hg38UCSC Ensembl
chr8:48819120..48822969hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg383850
hg193850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6417514
Supporting Variants
Samples
Known GenesPRKDC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18167707
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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