A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519732



Internal ID15100339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22914368..23536367hg38UCSC Ensembl
Innerchr12:23067302..23689301hg19UCSC Ensembl
Innerchr12:22958569..23580568hg18UCSC Ensembl
Innerchr12:22958569..23580568hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38622000
hg19622000
hg18622000
hg17622000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv91n21
Supporting Variantsnssv697017
Samples
Known GenesSOX5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519732
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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