A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683771



Internal ID15073737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247620588..248178490hg38UCSC Ensembl
Innerchr1:247783890..248341792hg19UCSC Ensembl
Innerchr1:245850513..246408415hg18UCSC Ensembl
Innerchr1:244109931..244667833hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38557903
hg19557903
hg18557903
hg17557903
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515858
Supporting Variants
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M5, OR2T8, OR2W3, OR6F1, TRIM58
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683771
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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