A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1169n145



Internal ID22814185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30382775..30387430hg38UCSC Ensembl
chr8:30240291..30244946hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg384656
hg194656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3112504, nsv3116182
Samplessample349, sample348
Known GenesRBPMS, RBPMS-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv1169n145
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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