A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040854



Internal ID18783385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129938574..130188473hg38UCSC Ensembl
Innerchr12:130423119..130673018hg19UCSC Ensembl
Innerchr12:128989072..129238971hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38249900
hg19249900
hg18249900
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526193
Samples
Known GenesFZD10, FZD10-AS1, LOC100190940
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040854
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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