A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009248



Internal ID18751779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248589903..248645256hg38UCSC Ensembl
Innerchr1:248753204..248808557hg19UCSC Ensembl
Innerchr1:246819827..246875180hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3855354
hg1955354
hg1855354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv635n100
Supporting Variantsnssv3496143, nssv3491211, nssv3486563
Samples
Known GenesOR2T10, OR2T11, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009248
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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