A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012092



Internal ID18754628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69622101..69650953hg38UCSC Ensembl
Innerchr4:70487819..70516671hg19UCSC Ensembl
Innerchr4:70522408..70551260hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3828853
hg1928853
hg1828853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5318n100
Supporting Variantsnssv3633061, nssv3633060
Samples
Known GenesUGT2A1, UGT2A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012092
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer