A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv800719



Internal ID16094675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94148083..94149498hg38UCSC Ensembl
Innerchr12:94541859..94543274hg19UCSC Ensembl
Innerchr12:93065990..93067405hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381416
hg191416
hg181416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559788
Supporting Variants
Samples
Known GenesPLXNC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv800719
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer