A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001474



Internal ID18744005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248179535..248496871hg38UCSC Ensembl
Innerchr1:248342837..248660172hg19UCSC Ensembl
Innerchr1:246409460..246726795hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38317337
hg19317336
hg18317336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3485801
Samples
Known GenesOR14C36, OR2M2, OR2M3, OR2M4, OR2M7, OR2T1, OR2T12, OR2T2, OR2T3, OR2T33, OR2T4, OR2T5, OR2T6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001474
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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