A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051316



Internal ID19140535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33803626..34275998hg38UCSC Ensembl
Innerchr12:33956561..34428933hg19UCSC Ensembl
Innerchr12:33847828..34320200hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38472373
hg19472373
hg18472373
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1436n100
Supporting Variantsnssv3712432
Samples
Known GenesALG10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051316
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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