A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054729



Internal ID19143948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134478080..134849662hg38UCSC Ensembl
Innerchr11:134347974..134719556hg19UCSC Ensembl
Innerchr11:133853184..134224766hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38371583
hg19371583
hg18371583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1308n100
Supporting Variantsnssv3507851, nssv3511570
Samples
Known GenesLOC283177
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054729
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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