A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054111



Internal ID18796642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:67163000..67471762hg38UCSC Ensembl
Innerchr12:67556780..67865542hg19UCSC Ensembl
Innerchr12:65843047..66151809hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38308763
hg19308763
hg18308763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524600
Samples
Known GenesCAND1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054111
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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