A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045689



Internal ID19134908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:105443192..105485332hg38UCSC Ensembl
Innerchr12:105836970..105879110hg19UCSC Ensembl
Innerchr12:104361100..104403240hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3842141
hg1942141
hg1842141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524873
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)nsv1045689
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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