A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011905



Internal ID18754440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68560718..68615992hg38UCSC Ensembl
Innerchr4:69426436..69481710hg19UCSC Ensembl
Innerchr4:69109031..69164305hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3855275
hg1955275
hg1855275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5286n100
Supporting Variantsnssv3628762
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)nsv1011905
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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