A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559842



Internal ID16000565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:96194083..96197874hg38UCSC Ensembl
Innerchr12:96587861..96591652hg19UCSC Ensembl
Innerchr12:95111992..95115783hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383792
hg193792
hg183792
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv800855
Samples
Known GenesELK3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559842
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