A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5443n54



Internal ID20138867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10090245..10512523hg38UCSC Ensembl
chr17:9993562..10415840hg19UCSC Ensembl
chr17:9934287..10356565hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38422279
hg19422279
hg18422279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574343, nsv574342, nsv574344
Samples
Known GenesGAS7, MYH1, MYH13, MYH4, MYH8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5443n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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