A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008396



Internal ID19097614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68563992..68674295hg38UCSC Ensembl
Innerchr4:69429710..69540013hg19UCSC Ensembl
Innerchr4:69112305..69222608hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38110304
hg19110304
hg18110304
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5278n100
Supporting Variantsnssv3628820, nssv3743943, nssv3628815, nssv3628816, nssv3628818, nssv3628819, nssv3628814, nssv3628813, nssv3628821, nssv3628817
Samples
Known GenesUGT2B15, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008396
Frequency
Sample Size11257
Observed Gain8
Observed Loss2
Observed Complex0
Frequencyn/a


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