A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560451



Internal ID16001174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120903778..120904437hg38UCSC Ensembl
Innerchr12:121341581..121342240hg19UCSC Ensembl
Innerchr12:119825964..119826623hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38660
hg19660
hg18660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2917n54
Supporting Variantsnssv803424
Samples
Known GenesSPPL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560451
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