A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14245342



Internal ID21313180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:126051274..126066614hg38UCSC Ensembl
Outerchr5:126049555..126073272hg38UCSC Ensembl
Innerchr5:125386967..125402307hg19UCSC Ensembl
Outerchr5:125385248..125408965hg19UCSC Ensembl
Innerchr5:125414866..125430206hg18UCSC Ensembl
Outerchr5:125413147..125436864hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3823718
hg1923718
hg1823718
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169688
Supporting Variants
SamplesSNI_8
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14245342
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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