A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3516233



Internal ID18467828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8296504..8639973hg38UCSC Ensembl
Innerchr12:8449100..8792569hg19UCSC Ensembl
Innerchr12:8340367..8683836hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38343470
hg19343470
hg18343470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1044543
Supporting Variants
Samples
Known GenesAICDA, CLEC4D, CLEC4E, CLEC6A, LINC00937
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3516233
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