A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000763



Internal ID18743294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248436984..248568732hg38UCSC Ensembl
Innerchr1:248600285..248732033hg19UCSC Ensembl
Innerchr1:246666908..246798656hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38131749
hg19131749
hg18131749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv616n100
Supporting Variantsnssv3485102
Samples
Known GenesOR2G6, OR2T2, OR2T29, OR2T3, OR2T5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000763
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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