A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998605



Internal ID18811455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158690274..158727028hg38UCSC Ensembl
Innerchr1:158660064..158696818hg19UCSC Ensembl
Innerchr1:156926688..156963442hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3836755
hg1936755
hg1836755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv445n100
Supporting Variantsnssv3499249
Samples
Known GenesOR6K2, OR6K3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998605
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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