A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009314



Internal ID18751845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248524847..248626379hg38UCSC Ensembl
Innerchr1:248688148..248789680hg19UCSC Ensembl
Innerchr1:246754771..246856303hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38101533
hg19101533
hg18101533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv620n100
Supporting Variantsnssv3487055
Samples
Known GenesOR2T10, OR2T11, OR2T29, OR2T34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009314
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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