A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045469



Internal ID19134688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33140973..33154428hg38UCSC Ensembl
Innerchr12:33293907..33307362hg19UCSC Ensembl
Innerchr12:33185174..33198629hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3813456
hg1913456
hg1813456
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1430n100
Supporting Variantsnssv3512496, nssv3510074, nssv3520467, nssv3503965, nssv3519890, nssv3518895, nssv3512358, nssv3503604, nssv3520441, nssv3517204, nssv3512179, nssv3520850, nssv3520530, nssv3513439, nssv3515930, nssv3505131, nssv3504843, nssv3521760, nssv3515425, nssv3520262, nssv3519910, nssv3519697, nssv3508167
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045469
Frequency
Sample Size11257
Observed Gain3
Observed Loss20
Observed Complex0
Frequencyn/a


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