A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571579



Internal ID16012302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18793415..19238897hg38UCSC Ensembl
Innerchr16:18804737..19250219hg19UCSC Ensembl
Innerchr16:18712238..19157720hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38445483
hg19445483
hg18445483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv852869
Samples
Known GenesARL6IP1, COQ7, ITPRIPL2, SMG1, SYT17, TMC7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571579
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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