A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7925n54



Internal ID19000101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46183473..46184039hg38UCSC Ensembl
chr21:47603387..47603953hg19UCSC Ensembl
chr21:46427815..46428381hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38567
hg19567
hg18567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587965, nsv587966
Samples
Known GenesSPATC1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7925n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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