A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047271



Internal ID18789802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131597710..131742961hg38UCSC Ensembl
Innerchr12:132082255..132227506hg19UCSC Ensembl
Innerchr12:130648208..130793459hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38145252
hg19145252
hg18145252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526358
Samples
Known GenesSFSWAP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047271
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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