A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249833



Internal ID21307918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68478894..68494769hg38UCSC Ensembl
Outerchr4:68472846..68494770hg38UCSC Ensembl
Innerchr4:69344612..69360487hg19UCSC Ensembl
Outerchr4:69338564..69360488hg19UCSC Ensembl
Innerchr4:69027207..69043082hg18UCSC Ensembl
Outerchr4:69021159..69043083hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3821925
hg1921925
hg1821925
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169477
Supporting Variants
SamplesNGO_38
Known GenesTMPRSS11E
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249833
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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