A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3254n100



Internal ID20154870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46317034..46710816hg38UCSC Ensembl
chr17:44394400..44788182hg19UCSC Ensembl
chr17:41750175..42143365hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38393783
hg19393783
hg18393191
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057916, nsv1058341, nsv1060304, nsv1061000, nsv1064013, nsv1060847, nsv1056151, nsv1060916, nsv1055771, nsv1058481, nsv1062767, nsv1066611, nsv1065582, nsv1067046, nsv1058043, nsv1058326, nsv1060962, nsv1055641, nsv1055512, nsv1060709, nsv1060166, nsv1066643, nsv1056798, nsv1055915, nsv1063091, nsv1066973, nsv1056774
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)dgv3254n100
Frequency
Sample Size29084
Observed Gain803
Observed Loss1537
Observed Complex0
Frequencyn/a


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