A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv174n100



Internal ID20151790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65386381..65506395hg38UCSC Ensembl
chr1:65852064..65972078hg19UCSC Ensembl
chr1:65624652..65744666hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38120015
hg19120015
hg18120015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005247, nsv998968, nsv1008606, nsv1008025
Samples
Known GenesDNAJC6, LEPR, LEPROT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv174n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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