A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv677n54



Internal ID22768572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:188462688..188602265hg38UCSC Ensembl
chr1:188431819..188571396hg19UCSC Ensembl
chr1:186698442..186838019hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38139578
hg19139578
hg18139578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548466, nsv548467
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv677n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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