A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3251n100



Internal ID20154867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46267481..46717206hg38UCSC Ensembl
chr17:44344847..44794572hg19UCSC Ensembl
chr17:41700624..42149756hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38449726
hg19449726
hg18449133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058453, nsv1057676, nsv1058940, nsv1061881, nsv1067485, nsv1058760, nsv1065365, nsv1057499, nsv1059915, nsv1063867, nsv1061443, nsv1065180, nsv1062700, nsv1055491, nsv1063319, nsv1059632, nsv1062028, nsv1056817, nsv1062439, nsv1065958, nsv1062868, nsv1066154, nsv1062531, nsv1060486, nsv1057878, nsv1063218, nsv1065243, nsv1066918, nsv1057864, nsv1066821
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)dgv3251n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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