A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6540n100



Internal ID20158156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102597673..102788957hg38UCSC Ensembl
chr7:102238120..102429404hg19UCSC Ensembl
chr7:102025190..102216640hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38191285
hg19191285
hg18191451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1031471, nsv1029058, nsv1016419
Samples
Known GenesFAM185A, POLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6540n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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