A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562940



Internal ID16350349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:99086330..99087569hg38UCSC Ensembl
Innerchr13:99738584..99739823hg19UCSC Ensembl
Innerchr13:98536585..98537824hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381240
hg191240
hg181240
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3360n54
Supporting Variantsnssv818106
Samples
Known GenesDOCK9, DOCK9-AS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562940
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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