A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051470



Internal ID18794001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130125641..130195466hg38UCSC Ensembl
Innerchr11:129995536..130065361hg19UCSC Ensembl
Innerchr11:129500746..129570571hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3869826
hg1969826
hg1869826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3520406
Samples
Known GenesAPLP2, ST14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051470
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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