A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7222n100



Internal ID22793309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52753073..52968653hg38UCSC Ensembl
chr8:53665633..53881213hg19UCSC Ensembl
chr8:53828186..54043766hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38215581
hg19215581
hg18215581
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1030205, nsv1031414, nsv1021221
Samples
Known GenesNPBWR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7222n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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