A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047210



Internal ID18789741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134287206..134340956hg38UCSC Ensembl
Innerchr11:134157100..134210850hg19UCSC Ensembl
Innerchr11:133662310..133716060hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3853751
hg1953751
hg1853751
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1303n100
Supporting Variantsnssv3516641, nssv3505542, nssv3511782, nssv3508744
Samples
Known GenesGLB1L2, GLB1L3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047210
Frequency
Sample Size29084
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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