A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516453



Internal ID15097060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67397024..67418529hg38UCSC Ensembl
Innerchr11:67164495..67186000hg19UCSC Ensembl
Innerchr11:66921071..66942576hg18UCSC Ensembl
Innerchr11:66921071..66942576hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3821506
hg1921506
hg1821506
hg1721506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv676516, nssv669703, nssv668487, nssv682954
Samples
Known GenesCARNS1, PPP1CA, RAD9A, TBC1D10C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516453
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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