A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5671n100



Internal ID22791758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56954015..57151511hg38UCSC Ensembl
chr5:56249842..56447338hg19UCSC Ensembl
chr5:56285599..56483095hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38197497
hg19197497
hg18197497
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1023344, nsv1017344, nsv1023111
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5671n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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