A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18169367



Internal ID20736407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65785801..65786500hg38UCSC Ensembl
chr8:66698036..66698735hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6420518
Supporting Variants
Samples
Known GenesPDE7A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18169367
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00053


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