A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5647n54



Internal ID20139071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46334049..46715917hg38UCSC Ensembl
chr17:44411415..44793283hg19UCSC Ensembl
chr17:41767177..42148466hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38381869
hg19381869
hg18381290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575287, nsv575318, nsv575302, nsv575353, nsv575349, nsv575291, nsv575350, nsv575351, nsv575283, nsv575343
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5647n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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