A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999247



Internal ID18812097
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 StatusM
Merged Variantsdgv476n100
Supporting Variantsnssv3498517, nssv3488068
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)nsv999247
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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