A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562351



Internal ID16003074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:75635643..75636856hg38UCSC Ensembl
Innerchr13:76209779..76210992hg19UCSC Ensembl
Innerchr13:75107780..75108993hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg381214
hg191214
hg181214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3257n54
Supporting Variantsnssv815771, nssv815770
Samples
Known GenesLMO7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562351
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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