A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv487n54



Internal ID22768382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108806322..108806980hg38UCSC Ensembl
chr1:109348944..109349602hg19UCSC Ensembl
chr1:109150467..109151125hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38659
hg19659
hg18659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547415, nsv547413, nsv547414
Samples
Known GenesSTXBP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv487n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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