A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011782



Internal ID18754316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248114937..248190319hg38UCSC Ensembl
Innerchr1:248278239..248353621hg19UCSC Ensembl
Innerchr1:246344862..246420244hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3875383
hg1975383
hg1875383
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3495368
Samples
Known GenesOR2M1P, OR2M2, OR2M5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011782
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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