A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250827



Internal ID21311233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115368662..115370745hg38UCSC Ensembl
Outerchr5:115367062..115370746hg38UCSC Ensembl
Innerchr5:114704359..114706442hg19UCSC Ensembl
Outerchr5:114702759..114706443hg19UCSC Ensembl
Innerchr5:114732258..114734341hg18UCSC Ensembl
Outerchr5:114730658..114734342hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg383685
hg193685
hg183685
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169551
Supporting Variants
SamplesPML_4
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250827
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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