A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv551486



Internal ID15992209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:70689573..70690583hg38UCSC Ensembl
Innerchr10:72449329..72450339hg19UCSC Ensembl
Innerchr10:72119335..72120345hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381011
hg191011
hg181011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1258n54
Supporting Variantsnssv750246, nssv750247, nssv750249, nssv750243, nssv750244, nssv750245, nssv750248
Samples
Known GenesADAMTS14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv551486
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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