A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005051



Internal ID18747582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179816508..179892815hg38UCSC Ensembl
Innerchr1:179785643..179861950hg19UCSC Ensembl
Innerchr1:178052266..178128573hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3876308
hg1976308
hg1876308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv473n100
Supporting Variantsnssv3489859
Samples
Known GenesTOR1AIP1, TOR1AIP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005051
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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