A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5685n54



Internal ID22773580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51399240..51477734hg38UCSC Ensembl
chr17:49476601..49555095hg19UCSC Ensembl
chr17:46831600..46910094hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3878495
hg1978495
hg1878495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575525, nsv575526, nsv575527
Samples1780862301_A, 1780862584_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5685n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer