A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040478



Internal ID19129697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131009992..131415578hg38UCSC Ensembl
Innerchr12:131494537..131900123hg19UCSC Ensembl
Innerchr12:130060490..130466076hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38405587
hg19405587
hg18405587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1580n100
Supporting Variantsnssv3526213
Samples
Known GenesGPR133, LOC116437, LOC338797
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040478
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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