A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558696



Internal ID16346105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40698864..40778208hg38UCSC Ensembl
Innerchr12:41092666..41172010hg19UCSC Ensembl
Innerchr12:39378933..39458277hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3879345
hg1979345
hg1879345
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv794055
Samples
Known GenesCNTN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558696
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