A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046743



Internal ID19135962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:90097880..90133970hg38UCSC Ensembl
Innerchr12:90491657..90527747hg19UCSC Ensembl
Innerchr12:89015788..89051878hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3836091
hg1936091
hg1836091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524818
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)nsv1046743
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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