A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572912



Internal ID16013635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69990399..70162409hg38UCSC Ensembl
Innerchr16:70024302..70196312hg19UCSC Ensembl
Innerchr16:68581803..68753813hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38172011
hg19172011
hg18172011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv859077, nssv859078
Samples
Known GenesMIR1972-1, MIR1972-2, PDPR, PDXDC2P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572912
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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