A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560308



Internal ID16001031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116088702..116090041hg38UCSC Ensembl
Innerchr12:116526507..116527846hg19UCSC Ensembl
Innerchr12:115010890..115012229hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg381340
hg191340
hg181340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv802805
Samples
Known GenesMED13L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560308
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