A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3072n100



Internal ID20154688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:410957..881396hg38UCSC Ensembl
chr17:260748..784636hg19UCSC Ensembl
chr17:261063..731386hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38470440
hg19523889
hg18470324
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059053, nsv1057141
Samples
Known GenesC17orf97, DBIL5P, FAM101B, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3072n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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