A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3507812



Internal ID18459407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9968689..10026775hg38UCSC Ensembl
Innerchr12:10121288..10179374hg19UCSC Ensembl
Innerchr12:10012555..10070641hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3858087
hg1958087
hg1858087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1040610
Supporting Variants
Samples
Known GenesCLEC12A, CLEC12B, CLEC1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3507812
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