A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048042



Internal ID18790573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:90191353..90229342hg38UCSC Ensembl
Innerchr11:89924521..89962510hg19UCSC Ensembl
Innerchr11:89564169..89602158hg18UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3837990
hg1937990
hg1837990
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3515677
Samples
Known GenesCHORDC1, NAALAD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048042
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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