A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007322



Internal ID18749853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248093622..248275150hg38UCSC Ensembl
Innerchr1:248256924..248438452hg19UCSC Ensembl
Innerchr1:246323547..246505075hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38181529
hg19181529
hg18181529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv611n100
Supporting Variantsnssv3492585
Samples
Known GenesOR2L13, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2T33
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007322
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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