A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv450n54



Internal ID22768345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:105266420..105407694hg38UCSC Ensembl
chr1:105809042..105950316hg19UCSC Ensembl
chr1:105610565..105751839hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38141275
hg19141275
hg18141275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547239, nsv547240
SamplesNINDS_125, NINDS_117
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv450n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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