A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010139



Internal ID18752670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248585881..248681796hg38UCSC Ensembl
Innerchr1:248749182..248845097hg19UCSC Ensembl
Innerchr1:246815805..246911720hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3895916
hg1995916
hg1895916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv638n100
Supporting Variantsnssv3491854
Samples
Known GenesOR14I1, OR2T10, OR2T11, OR2T27, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010139
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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