A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045497



Internal ID18788028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31060801..31305613hg38UCSC Ensembl
Innerchr12:31213735..31458547hg19UCSC Ensembl
Innerchr12:31105002..31349814hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38244813
hg19244813
hg18244813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3710343
Samples
Known GenesDDX11, DDX11-AS1, FAM60A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045497
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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