A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009112



Internal ID18751643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180158481..180207844hg38UCSC Ensembl
Innerchr1:180127616..180176979hg19UCSC Ensembl
Innerchr1:178394239..178443602hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3849364
hg1949364
hg1849364
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv475n100
Supporting Variantsnssv3502560
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)nsv1009112
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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