A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17448234



Internal ID22506104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42947015..43232140hg38UCSC Ensembl
chr8:42802158..43087283hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38285126
hg19285126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5915925
Supporting Variants
Samples
Known GenesFNTA, HGSNAT, HOOK3, POMK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17448234
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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