A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv570948



Internal ID16011671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:279211..287691hg38UCSC Ensembl
Innerchr16:329211..337691hg19UCSC Ensembl
Innerchr16:269212..277692hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg388481
hg198481
hg188481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4808n54
Supporting Variantsnssv851301
Samples
Known GenesARHGDIG, AXIN1, PDIA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv570948
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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