A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3500922



Internal ID18741877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247669176..247979139hg38UCSC Ensembl
Innerchr1:247832478..248142441hg19UCSC Ensembl
Innerchr1:245899101..246209064hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38309964
hg19309964
hg18309964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001590
Supporting Variants
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L8, OR2T8, OR2W3, OR6F1, TRIM58
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3500922
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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