A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014240



Internal ID19103461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68548042..68607148hg38UCSC Ensembl
Innerchr4:69413760..69472866hg19UCSC Ensembl
Innerchr4:69096355..69155461hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3859107
hg1959107
hg1859107
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5274n100
Supporting Variantsnssv3630877
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)nsv1014240
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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