A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3498055



Internal ID18739010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247664654..248129856hg38UCSC Ensembl
Innerchr1:247827956..248293158hg19UCSC Ensembl
Innerchr1:245894579..246359781hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38465203
hg19465203
hg18465203
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014174
Supporting Variants
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, 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)nssv3498055
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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