A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002022



Internal ID18744553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248461024..248574134hg38UCSC Ensembl
Innerchr1:248624325..248737435hg19UCSC Ensembl
Innerchr1:246690948..246804058hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38113111
hg19113111
hg18113111
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv617n100
Supporting Variantsnssv3489488, nssv3494187, nssv3494849
Samples
Known GenesOR2G6, OR2T29, OR2T3, OR2T34, OR2T5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002022
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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