A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18163780



Internal ID20730820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117520701..117521200hg38UCSC Ensembl
chr8:118532940..118533439hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6426239
Supporting Variants
Samples
Known GenesMED30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18163780
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00093


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