A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051492



Internal ID18794023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:34620051..34767784hg38UCSC Ensembl
Innerchr11:34641598..34789331hg19UCSC Ensembl
Innerchr11:34598174..34745907hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38147734
hg19147734
hg18147734
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1094n100
Supporting Variantsnssv3503079, nssv3507423, nssv3710078
Samples
Known GenesEHF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051492
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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