A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049524



Internal ID18792055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107670211..108083284hg38UCSC Ensembl
Innerchr11:107540937..107954011hg19UCSC Ensembl
Innerchr11:107046147..107459221hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38413074
hg19413075
hg18413075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1274n100
Supporting Variantsnssv3517160
Samples
Known GenesCUL5, RAB39A, SLC35F2, SLN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049524
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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