A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516931



Internal ID15097538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3244696..3247068hg38UCSC Ensembl
Innerchr12:3353862..3356234hg19UCSC Ensembl
Innerchr12:3224123..3226495hg18UCSC Ensembl
Innerchr12:3224123..3226495hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg382373
hg192373
hg182373
hg172373
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv675629, nssv655025
Samples
Known GenesTSPAN9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516931
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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