A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006563



Internal ID18749094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248085794..248271507hg38UCSC Ensembl
Innerchr1:248249096..248434809hg19UCSC Ensembl
Innerchr1:246315719..246501432hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38185714
hg19185714
hg18185714
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3494165, nssv3490366, nssv3493481, nssv3488722, nssv3489362, nssv3489508, nssv3485722, nssv3501919
Samples
Known GenesOR2L13, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006563
Frequency
Sample Size29084
Observed Gain7
Observed Loss1
Observed Complex0
Frequencyn/a


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