A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv803812



Internal ID15751082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123911435..123914458hg38UCSC Ensembl
Innerchr12:124395982..124399005hg19UCSC Ensembl
Innerchr12:122961935..122964958hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383024
hg193024
hg183024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560513
Supporting Variants
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv803812
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