A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5602n54



Internal ID22773497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44218452..44221422hg38UCSC Ensembl
chr17:42295820..42298790hg19UCSC Ensembl
chr17:39651346..39654316hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382971
hg192971
hg182971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575068, nsv575081, nsv575069, nsv575075, nsv575080, nsv575070, nsv575073
Samples
Known GenesUBTF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5602n54
Frequency
Sample Size17421
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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