A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14244313



Internal ID21308679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68416487..68494769hg38UCSC Ensembl
Outerchr4:68395346..68494770hg38UCSC Ensembl
Innerchr4:69282205..69360487hg19UCSC Ensembl
Outerchr4:69261064..69360488hg19UCSC Ensembl
Innerchr4:68964800..69043082hg18UCSC Ensembl
Outerchr4:68943659..69043083hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3899425
hg1999425
hg1899425
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169477
Supporting Variants
SamplesNGO_44
Known GenesTMPRSS11E
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14244313
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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