A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv414n100



Internal ID22786501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150356000..150477349hg38UCSC Ensembl
chr1:150328476..150449825hg19UCSC Ensembl
chr1:148595100..148716449hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38121350
hg19121350
hg18121350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004385, nsv1004099, nsv999536, nsv998186
Samples
Known GenesRPRD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv414n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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