A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012049



Internal ID19101267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248497239..248633900hg38UCSC Ensembl
Innerchr1:248660540..248797201hg19UCSC Ensembl
Innerchr1:246727163..246863824hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38136662
hg19136662
hg18136662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv618n100
Supporting Variantsnssv3490796, nssv3483538
Samples
Known GenesOR2G6, OR2T10, 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)nsv1012049
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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