A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17450570



Internal ID22508441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1585033..1586932hg38UCSC Ensembl
chr12:1694199..1696098hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5848138
Supporting Variants
Samples
Known GenesFBXL14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17450570
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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