A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044909



Internal ID19134128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130407618..130447144hg38UCSC Ensembl
Innerchr12:130892163..130931689hg19UCSC Ensembl
Innerchr12:129458116..129497642hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3839527
hg1939527
hg1839527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526198
Samples
Known GenesRIMBP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044909
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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