A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042269



Internal ID19131488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52042..116533hg38UCSC Ensembl
Innerchr12:161208..225699hg19UCSC Ensembl
Innerchr12:31469..95960hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3864492
hg1964492
hg1864492
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1326n100
Supporting Variantsnssv3504697, nssv3518281
Samples
Known GenesIQSEC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042269
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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