A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010087



Internal ID18752618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247817374..247897437hg38UCSC Ensembl
Innerchr1:247980676..248060739hg19UCSC Ensembl
Innerchr1:246047299..246127362hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3880064
hg1980064
hg1880064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3705577
Samples
Known GenesOR11L1, OR2W3, TRIM58
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010087
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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