A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563393



Internal ID16004116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113812448..113820661hg38UCSC Ensembl
Innerchr13:114515421..114523634hg19UCSC Ensembl
Innerchr13:113590309..113598522hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg388214
hg198214
hg188214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3451n54
Supporting Variantsnssv820687
Samples
Known GenesGAS6, GAS6-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563393
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