A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007517



Internal ID18750048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247654777..248124474hg38UCSC Ensembl
Innerchr1:247818079..248287776hg19UCSC Ensembl
Innerchr1:245884702..246354399hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38469698
hg19469698
hg18469698
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv604n100
Supporting Variantsnssv3493541
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2T8, OR2W3, OR6F1, TRIM58
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007517
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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