A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009722



Internal ID19098940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509618..68586170hg38UCSC Ensembl
Innerchr4:69375336..69451888hg19UCSC Ensembl
Innerchr4:69057931..69134483hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3876553
hg1976553
hg1876553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5266n100
Supporting Variantsnssv3629621, nssv3744827, nssv3744825, nssv3744826, nssv3744829, nssv3629624, nssv3629622, nssv3629623, nssv3744831, nssv3744830, nssv3744828, nssv3744832, nssv3629620
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009722
Frequency
Sample Size11257
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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