A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046387



Internal ID19135606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31104761..31249756hg38UCSC Ensembl
Innerchr12:31257695..31402690hg19UCSC Ensembl
Innerchr12:31148962..31293957hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38144996
hg19144996
hg18144996
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1417n100
Supporting Variantsnssv3516685, nssv3511049, nssv3518841, nssv3511481, nssv3503820, nssv3514505, nssv3511912, nssv3511467, nssv3508351, nssv3710346, nssv3503686, nssv3522095, nssv3509112, nssv3511956, nssv3516259
Samples
Known GenesDDX11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046387
Frequency
Sample Size11257
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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