A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17493007



Internal ID22550935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:108229816..108230915hg38UCSC Ensembl
chr5:107565517..107566616hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5840977
Supporting Variants
Samples
Known GenesFBXL17
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17493007
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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