A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv748n100



Internal ID19011116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46526513..46631445hg38UCSC Ensembl
chr10:46918172..47030888hg19UCSC Ensembl
chr10:46338178..46450894hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38104933
hg19112717
hg18112717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041104, nsv1054777, nsv1048527, nsv1044361
Samples
Known GenesFAM35BP, GPRIN2, SYT15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv748n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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