A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602985



Internal ID16390394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:41734485..41735464hg38UCSC Ensembl
Innerchr6:41702223..41703202hg19UCSC Ensembl
Innerchr6:41810201..41811180hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38980
hg19980
hg18980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10638n54
Supporting Variantsnssv1058414
Samples
Known GenesTFEB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602985
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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