A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001680



Internal ID18744211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248568732..248645256hg38UCSC Ensembl
Innerchr1:248732033..248808557hg19UCSC Ensembl
Innerchr1:246798656..246875180hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3876525
hg1976525
hg1876525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv626n100
Supporting Variantsnssv3492202, nssv3488059
Samples
Known GenesOR2T10, OR2T11, OR2T34, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001680
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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