A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787527



Internal ID16081483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9405722..9573873hg38UCSC Ensembl
Innerchr12:9558318..9726469hg19UCSC Ensembl
Innerchr12:9449585..9617736hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38168152
hg19168152
hg18168152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557393
Supporting Variants
Samples
Known GenesDDX12P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv787527
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