A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050742



Internal ID19139961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:89796627..89846575hg38UCSC Ensembl
Innerchr12:90190404..90240352hg19UCSC Ensembl
Innerchr12:88714535..88764483hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3849949
hg1949949
hg1849949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524807
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)nsv1050742
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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