A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv573n100



Internal ID22786660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213197784..213254678hg38UCSC Ensembl
chr1:213371127..213428021hg19UCSC Ensembl
chr1:211437750..211494644hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3856895
hg1956895
hg1856895
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001201, nsv1012014
Samples
Known GenesRPS6KC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv573n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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