A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008024



Internal ID18750555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247817374..248075279hg38UCSC Ensembl
Innerchr1:247980676..248238581hg19UCSC Ensembl
Innerchr1:246047299..246305204hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38257906
hg19257906
hg18257906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3494792
Samples
Known GenesOR11L1, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2T8, OR2W3, TRIM58
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008024
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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