A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv274n54



Internal ID20133698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52141905..52144342hg38UCSC Ensembl
chr1:52607577..52610014hg19UCSC Ensembl
chr1:52380165..52382602hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382438
hg192438
hg182438
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546233, nsv546236
Samples
Known GenesZFYVE9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv274n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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