A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3184n100



Internal ID22789271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46080109..46331296hg38UCSC Ensembl
chr17:44157475..44408662hg19UCSC Ensembl
chr17:41513294..41764423hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38251188
hg19251188
hg18251130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062325, nsv1063727, nsv1055498, nsv1062913, nsv1063274, nsv1056362, nsv1059572, nsv1063732, nsv1055646, nsv1056489, nsv1057743, nsv1063758, nsv1056548, nsv1063473, nsv1063580, nsv1065267, nsv1063668, nsv1055620
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3184n100
Frequency
Sample Size11257
Observed Gain73
Observed Loss0
Observed Complex0
Frequencyn/a


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