A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3498539



Internal ID18739494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248085794..248275150hg38UCSC Ensembl
Innerchr1:248249096..248438452hg19UCSC Ensembl
Innerchr1:246315719..246505075hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38189357
hg19189357
hg18189357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv997981
Supporting Variants
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)nssv3498539
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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