A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3185n100



Internal ID20154801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46080109..46383054hg38UCSC Ensembl
chr17:44157475..44460420hg19UCSC Ensembl
chr17:41513294..41815840hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38302946
hg19302946
hg18302547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066721, nsv1065712, nsv1058262, nsv1065100, nsv1059914, nsv1055427, nsv1056656, nsv1065177, nsv1056831, nsv1064822, nsv1062979, nsv1058883, nsv1064174, nsv1061608, nsv1057532, nsv1057503, nsv1058525, nsv1062740, nsv1058011, nsv1057393, nsv1060883
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)dgv3185n100
Frequency
Sample Size29084
Observed Gain45
Observed Loss0
Observed Complex0
Frequencyn/a


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