A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054127



Internal ID19143346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6129313..6182369hg38UCSC Ensembl
Innerchr12:6238479..6291535hg19UCSC Ensembl
Innerchr12:6108740..6161796hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3853057
hg1953057
hg1853057
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3516527
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)nsv1054127
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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