A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5751n54



Internal ID20139175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67393189..67405433hg38UCSC Ensembl
chr17:65389305..65401549hg19UCSC Ensembl
chr17:62819767..62832011hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3812245
hg1912245
hg1812245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575901, nsv575902
Samples
Known GenesPITPNC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5751n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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