A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054927



Internal ID19144146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33172069..33227019hg38UCSC Ensembl
Innerchr12:33325003..33379954hg19UCSC Ensembl
Innerchr12:33216270..33271221hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3854951
hg1954952
hg1854952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3517936
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)nsv1054927
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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