A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5648n54



Internal ID20139072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46342566..46704811hg38UCSC Ensembl
chr17:44419932..44782177hg19UCSC Ensembl
chr17:41775690..42137359hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38362246
hg19362246
hg18361670
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575290, nsv575331, nsv575325, nsv575300, nsv575317, nsv575310
Samples
Known GenesARL17A, ARL17B, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5648n54
Frequency
Sample Size17421
Observed Gain15
Observed Loss12
Observed Complex0
Frequencyn/a


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