A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712612



Internal ID18664207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123630488..123711309hg38UCSC Ensembl
Innerchr12:124115035..124195856hg19UCSC Ensembl
Innerchr12:122680988..122761809hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3880822
hg1980822
hg1880822
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1042866
Supporting Variants
Samples
Known GenesEIF2B1, GTF2H3, TCTN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3712612
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