A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558248



Internal ID16345657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33371147..33561931hg38UCSC Ensembl
Innerchr12:33524082..33714866hg19UCSC Ensembl
Innerchr12:33415349..33606133hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38190785
hg19190785
hg18190785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv792629
Samples
Known GenesSYT10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558248
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