A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv728n54



Internal ID22768623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:195253450..195417767hg38UCSC Ensembl
chr1:195222580..195386897hg19UCSC Ensembl
chr1:193489203..193653520hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38164318
hg19164318
hg18164318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548710, nsv548712, nsv548709
SamplesHGDP00700, HGDP00737
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv728n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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