A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561286



Internal ID16002009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22950168..24378278hg38UCSC Ensembl
Innerchr13:23524307..24952416hg19UCSC Ensembl
Innerchr13:22422307..23850416hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381428111
hg191428110
hg181428110
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3084n54
Supporting Variantsnssv806242
Samples
Known GenesANKRD20A19P, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561286
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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