A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2848022



Internal ID15637346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119992054..120046958hg38UCSC Ensembl
Innerchr1:120534677..120589581hg19UCSC Ensembl
Innerchr1:120336200..120391104hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3854905
hg1954905
hg1854905
Variant TypeCNV gain
Copy Number10
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514912
Supporting Variants
SamplesNA12400
Known GenesNOTCH2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2848022
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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