A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10n54



Internal ID20133434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:929558..935265hg38UCSC Ensembl
chr1:864938..870645hg19UCSC Ensembl
chr1:854801..860508hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg385708
hg195708
hg185708
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv544906, nsv544905
Samples
Known GenesSAMD11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss7
Observed Complex0
Frequencyn/a


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