A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv571n100



Internal ID20152187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212831823..212896221hg38UCSC Ensembl
chr1:213005165..213069563hg19UCSC Ensembl
chr1:211071788..211136186hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3864399
hg1964399
hg1864399
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011186, nsv1013705
Samples
Known GenesC1orf227, FLVCR1, FLVCR1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv571n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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