A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5603n54



Internal ID22773498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44218610..44221240hg38UCSC Ensembl
chr17:42295978..42298608hg19UCSC Ensembl
chr17:39651504..39654134hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382631
hg192631
hg182631
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575072, nsv575079, nsv575074
Samples
Known GenesUBTF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5603n54
Frequency
Sample Size17421
Observed Gain23
Observed Loss4
Observed Complex0
Frequencyn/a


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