A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv615243



Internal ID16055966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114284841..114343856hg38UCSC Ensembl
Innerchr9:117047121..117106136hg19UCSC Ensembl
Innerchr9:116086942..116145957hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3859016
hg1959016
hg1859016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12860n54
Supporting Variantsnssv1176483
SamplesHGDP00600
Known GenesAKNA, COL27A1, ORM1, ORM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv615243
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