A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010423



Internal ID18752954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248645256..248709345hg38UCSC Ensembl
Innerchr1:248808557..248872646hg19UCSC Ensembl
Innerchr1:246875180..246939269hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3864090
hg1964090
hg1864090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv642n100
Supporting Variantsnssv3489752
Samples
Known GenesOR14I1, OR2T27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010423
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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