A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046695



Internal ID19135914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67730549..67981775hg38UCSC Ensembl
Innerchr11:67498020..67749246hg19UCSC Ensembl
Innerchr11:67254596..67505822hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38251227
hg19251227
hg18251227
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1216n100
Supporting Variantsnssv3518896, nssv3512607, nssv3710627, nssv3516014, nssv3521720, nssv3515113, nssv3509890, nssv3509098, nssv3510794, nssv3507512, nssv3710630, nssv3710629, nssv3710631, nssv3710628, nssv3518879, nssv3516887, nssv3521397, nssv3710632, nssv3519774
Samples
Known GenesFAM86C2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046695
Frequency
Sample Size11257
Observed Gain18
Observed Loss1
Observed Complex0
Frequencyn/a


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