A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5689n100



Internal ID20157305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62155965..62735538hg38UCSC Ensembl
chr5:61451792..62031365hg19UCSC Ensembl
chr5:61487549..62067121hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38579574
hg19579574
hg18579573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1027539, nsv1020255
Samples
Known GenesDIMT1, IPO11, IPO11-LRRC70, KIF2A, LRRC70
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5689n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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