A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5658n54



Internal ID20139082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46565999..46610400hg38UCSC Ensembl
chr17:44643365..44687766hg19UCSC Ensembl
chr17:41998681..42043082hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3844402
hg1944402
hg1844402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575393, nsv575396, nsv575390
Samples
Known GenesARL17A, ARL17B, NSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5658n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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