A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049950



Internal ID19139169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130989607..131021548hg38UCSC Ensembl
Innerchr12:131474152..131506093hg19UCSC Ensembl
Innerchr12:130040105..130072046hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3831942
hg1931942
hg1831942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526210
Samples
Known GenesGPR133
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049950
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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