A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563120



Internal ID16350529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110385507..110388451hg38UCSC Ensembl
Innerchr13:111037854..111040798hg19UCSC Ensembl
Innerchr13:109835855..109838799hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg382945
hg192945
hg182945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv819755
Samples
Known GenesCOL4A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563120
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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