A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3189n100



Internal ID20154805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46088437..46494937hg38UCSC Ensembl
chr17:44165803..44572303hg19UCSC Ensembl
chr17:41521621..41927619hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38406501
hg19406501
hg18405999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062009, nsv1066124, nsv1055490, nsv1065158, nsv1061419, nsv1061230, nsv1061119, nsv1057549, nsv1066708, nsv1065739, nsv1064169
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3189n100
Frequency
Sample Size29084
Observed Gain35
Observed Loss0
Observed Complex0
Frequencyn/a


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