A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3518933



Internal ID18470528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31108764..31249756hg38UCSC Ensembl
Innerchr12:31261698..31402690hg19UCSC Ensembl
Innerchr12:31152965..31293957hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38140993
hg19140993
hg18140993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053395
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3518933
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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