A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558786



Internal ID16346195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47548246..47650228hg38UCSC Ensembl
Innerchr12:47942029..48044011hg19UCSC Ensembl
Innerchr12:46228296..46330278hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38101983
hg19101983
hg18101983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv795294
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558786
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