A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3498517



Internal ID18739472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180158481..180226933hg38UCSC Ensembl
Innerchr1:180127616..180196068hg19UCSC Ensembl
Innerchr1:178394239..178462691hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3868453
hg1968453
hg1868453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999247
Supporting Variants
Samples
Known GenesFLJ23867, QSOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3498517
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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