A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248478



Internal ID21312309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68416487..68422424hg38UCSC Ensembl
Outerchr4:68395346..68429081hg38UCSC Ensembl
Innerchr4:69282205..69288142hg19UCSC Ensembl
Outerchr4:69261064..69294799hg19UCSC Ensembl
Innerchr4:68964800..68970737hg18UCSC Ensembl
Outerchr4:68943659..68977394hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3833736
hg1933736
hg1833736
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169477
Supporting Variants
SamplesSNI_17
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248478
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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