A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5835n100



Internal ID20157451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176033072..176245085hg38UCSC Ensembl
chr5:175460075..175672088hg19UCSC Ensembl
chr5:175392681..175604694hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38212014
hg19212014
hg18212014
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1029384, nsv1031366, nsv1016170, nsv1023513, nsv1031551, nsv1021840, nsv1018059
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, SIMC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5835n100
Frequency
Sample Size29084
Observed Gain16
Observed Loss17
Observed Complex0
Frequencyn/a


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