A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3494165



Internal ID18735120
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006563
Supporting Variants
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)nssv3494165
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer