A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042866



Internal ID18785397
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 StatusM
Merged Variantsdgv1566n100
Supporting Variantsnssv3712612, nssv3712611, nssv3712610, nssv3526100
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)nsv1042866
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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