A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557391



Internal ID16344800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9405722..9561734hg38UCSC Ensembl
Innerchr12:9558318..9714330hg19UCSC Ensembl
Innerchr12:9449585..9605597hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38156013
hg19156013
hg18156013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2344n54
Supporting Variantsnssv787515, nssv787517, nssv787516, nssv787514
Samples
Known GenesDDX12P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557391
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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