A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561336



Internal ID16002059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23422058..23453495hg38UCSC Ensembl
Innerchr13:23996197..24027634hg19UCSC Ensembl
Innerchr13:22894197..22925634hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3831438
hg1931438
hg1831438
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176337
SamplesHGDP00670
Known GenesSACS, SACS-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561336
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