A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173214



Internal ID15527464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:159891127..159938603hg38UCSC Ensembl
Innerchr1:159860917..159908393hg19UCSC Ensembl
Innerchr1:158127541..158175017hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg3847477
hg1947477
hg1847477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548052
Supporting Variants
SamplesHGDP00473
Known GenesCCDC19, IGSF9, TAGLN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173214
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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