A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043487



Internal ID18786018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67593428..67895005hg38UCSC Ensembl
Innerchr11:67360899..67662476hg19UCSC Ensembl
Innerchr11:67117475..67419052hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38301578
hg19301578
hg18301578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1214n100
Supporting Variantsnssv3710616
Samples
Known GenesACY3, ALDH3B2, DOC2GP, FAM86C2P, NDUFV1, NUDT8, TBX10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043487
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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