A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042017



Internal ID18784548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:87152177..88155066hg38UCSC Ensembl
Innerchr11:86863219..87888234hg19UCSC Ensembl
Innerchr11:86540867..87527882hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg381002890
hg191025016
hg18987016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3710696
Samples
Known GenesRAB38, TMEM135
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042017
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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