A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv300n21



Internal ID20132021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142692358..142784763hg38UCSC Ensembl
chr3:142411200..142503605hg19UCSC Ensembl
chr3:143893890..143986295hg18UCSC Ensembl
chr3:143893898..143986303hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3892406
hg1992406
hg1892406
hg1792406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv521098, nsv518623
Samples
Known GenesPLS1, TRPC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv300n21
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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