A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552219



Internal ID16339628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:120467056..120468971hg38UCSC Ensembl
Innerchr10:122226568..122228483hg19UCSC Ensembl
Innerchr10:122216558..122218473hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg381916
hg191916
hg181916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1403n54
Supporting Variantsnssv758799
Samples
Known GenesPPAPDC1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552219
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