A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17447265



Internal ID22505135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42714370..42718458hg38UCSC Ensembl
chr8:42569513..42573601hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg384089
hg194089
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5911929
Supporting Variants
Samples
Known GenesCHRNB3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17447265
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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