A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249260



Internal ID21311141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115370746..115385388hg38UCSC Ensembl
Outerchr5:115369510..115387269hg38UCSC Ensembl
Innerchr5:114706443..114721085hg19UCSC Ensembl
Outerchr5:114705207..114722966hg19UCSC Ensembl
Innerchr5:114734342..114748984hg18UCSC Ensembl
Outerchr5:114733106..114750865hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3817760
hg1917760
hg1817760
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169606
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)nssv14249260
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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