A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041983



Internal ID19131202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22818845..22853397hg38UCSC Ensembl
Innerchr12:22971779..23006331hg19UCSC Ensembl
Innerchr12:22863046..22897598hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3834553
hg1934553
hg1834553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3508856
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041983
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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