A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10637n54



Internal ID20144061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41733968..41740926hg38UCSC Ensembl
chr6:41701706..41708664hg19UCSC Ensembl
chr6:41809684..41816642hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg386959
hg196959
hg186959
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv602982, nsv602987, nsv602979, nsv602976
Samples
Known GenesPGC, TFEB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10637n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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