A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247251



Internal ID21306115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68494770..68620261hg38UCSC Ensembl
Outerchr4:68478894..68623617hg38UCSC Ensembl
Innerchr4:69360488..69485979hg19UCSC Ensembl
Outerchr4:69344612..69489335hg19UCSC Ensembl
Innerchr4:69043083..69168574hg18UCSC Ensembl
Outerchr4:69027207..69171930hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38144724
hg19144724
hg18144724
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170256
Supporting Variants
SamplesNGO_25
Known GenesTMPRSS11E, UGT2B17
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247251
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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