A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1058402



Internal ID15911588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:41733968..41735464hg38UCSC Ensembl
Innerchr6:41701706..41703202hg19UCSC Ensembl
Innerchr6:41809684..41811180hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381497
hg191497
hg181497
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv602975
Supporting Variants
Samples
Known GenesTFEB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1058402
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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