A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005709



Internal ID19094926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248159014..248263526hg38UCSC Ensembl
Innerchr1:248322316..248426828hg19UCSC Ensembl
Innerchr1:246388939..246493451hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38104513
hg19104513
hg18104513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv614n100
Supporting Variantsnssv3491314
Samples
Known GenesOR2M2, OR2M3, OR2M4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005709
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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