A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3255n100



Internal ID20154871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46317034..46717894hg38UCSC Ensembl
chr17:44394400..44795260hg19UCSC Ensembl
chr17:41750175..42150444hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38400861
hg19400861
hg18400270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1067518, nsv1057534, nsv1057524, nsv1059742, nsv1056263, nsv1059198, nsv1062150
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)dgv3255n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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