A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559019



Internal ID16346428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56937957..56983725hg38UCSC Ensembl
Innerchr12:57331741..57377509hg19UCSC Ensembl
Innerchr12:55618008..55663776hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3845769
hg1945769
hg1845769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2649n54
Supporting Variantsnssv796307
Samples
Known GenesRDH16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559019
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