A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3250n100



Internal ID20154866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46267481..46708304hg38UCSC Ensembl
chr17:44344847..44785670hg19UCSC Ensembl
chr17:41700624..42140851hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38440824
hg19440824
hg18440228
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1067159, nsv1055608, nsv1059804, nsv1055534, nsv1063866, nsv1057805, nsv1062424, nsv1064749, nsv1062475, nsv1057258, nsv1059593, nsv1061370, nsv1063651, nsv1059661, nsv1065340, nsv1057038, nsv1066800, nsv1058366, nsv1066531, nsv1063638, nsv1062114
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3250n100
Frequency
Sample Size29084
Observed Gain341
Observed Loss318
Observed Complex0
Frequencyn/a


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