A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv834n54



Internal ID22768729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225004150..225132196hg38UCSC Ensembl
chr1:225191852..225319898hg19UCSC Ensembl
chr1:223258475..223386521hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38128047
hg19128047
hg18128047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549263, nsv549262
Samples
Known GenesDNAH14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv834n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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