A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv604n54



Internal ID22768499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159044561..159048132hg38UCSC Ensembl
chr1:159014351..159017922hg19UCSC Ensembl
chr1:157280975..157284546hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg383572
hg193572
hg183572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548048, nsv548049
Samples
Known GenesIFI16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv604n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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