A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250251



Internal ID21301794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:38144944..38148786hg38UCSC Ensembl
Outerchr5:38144390..38149898hg38UCSC Ensembl
Innerchr5:38145046..38148888hg19UCSC Ensembl
Outerchr5:38144492..38150000hg19UCSC Ensembl
Innerchr5:38180803..38184645hg18UCSC Ensembl
Outerchr5:38180249..38185757hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg385509
hg195509
hg185509
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170260
Supporting Variants
SamplesMLY_10
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250251
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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