A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046044



Internal ID18788575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67708130..67981775hg38UCSC Ensembl
Innerchr11:67475601..67749246hg19UCSC Ensembl
Innerchr11:67232177..67505822hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38273646
hg19273646
hg18273646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1215n100
Supporting Variantsnssv3518495, nssv3710622, nssv3521724, nssv3710620, nssv3710619, nssv3710621
Samples
Known GenesFAM86C2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046044
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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