A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5844n100



Internal ID19016212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177883324..178184647hg38UCSC Ensembl
chr5:177310325..177611648hg19UCSC Ensembl
chr5:177242931..177544254hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38301324
hg19301324
hg18301324
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1030383, nsv1021198
Samples
Known GenesFAM153C, GMCL1P1, LOC728554, N4BP3, NHP2, PROP1, RMND5B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5844n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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