A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17419514



Internal ID22477384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:12513093..12745595hg38UCSC Ensembl
chr5:12513205..12745707hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38232503
hg19232503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5898721
Supporting Variants
Samples
Known GenesCT49
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17419514
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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