A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562699



Internal ID16350108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:91347483..91349096hg38UCSC Ensembl
Innerchr13:91999737..92001350hg19UCSC Ensembl
Innerchr13:90797738..90799351hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg381614
hg191614
hg181614
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3314n54
Supporting Variantsnssv817423, nssv817422
Samples
Known GenesMIR17HG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562699
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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