A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5707n54



Internal ID22773602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54350547..54494142hg38UCSC Ensembl
chr17:52427908..52571503hg19UCSC Ensembl
chr17:49782907..49926502hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38143596
hg19143596
hg18143596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575654, nsv575653
Samples1780854462_A
Known GenesMIR548AJ2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5707n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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