A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247239



Internal ID21302561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68494770..68686026hg38UCSC Ensembl
Innerchr4:69360488..69551744hg19UCSC Ensembl
Innerchr4:69043083..69234339hg18UCSC Ensembl
Outerchr4:69027207..69378740hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38191257
hg19191257
hg18351534
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170256
Supporting Variants
SamplesMLY_15
Known GenesTMPRSS11E, UGT2B15, UGT2B17
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247239
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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