A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv716n54



Internal ID20134140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192279986..192404649hg38UCSC Ensembl
chr1:192249116..192373779hg19UCSC Ensembl
chr1:190515739..190640402hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38124664
hg19124664
hg18124664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548654, nsv548655, nsv548652, nsv548653
Samples
Known GenesRGS21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv716n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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