A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562698



Internal ID16350107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:91347483..91348945hg38UCSC Ensembl
Innerchr13:91999737..92001199hg19UCSC Ensembl
Innerchr13:90797738..90799200hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg381463
hg191463
hg181463
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3314n54
Supporting Variantsnssv817420, nssv817421
Samples
Known GenesMIR17HG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562698
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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