A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009414



Internal ID18751945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248568732..248632551hg38UCSC Ensembl
Innerchr1:248732033..248795852hg19UCSC Ensembl
Innerchr1:246798656..246862475hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3863820
hg1963820
hg1863820
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv629n100
Supporting Variantsnssv3705647, nssv3490219
Samples
Known GenesOR2T10, OR2T11, OR2T34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009414
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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