A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046417



Internal ID19135636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118484840..118497403hg38UCSC Ensembl
Innerchr11:118355555..118368118hg19UCSC Ensembl
Innerchr11:117860765..117873328hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3812564
hg1912564
hg1812564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1284n100
Supporting Variantsnssv3512944
Samples
Known GenesKMT2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046417
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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