A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv173n54



Internal ID22768068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17349796..17356546hg38UCSC Ensembl
chr1:17676291..17683041hg19UCSC Ensembl
chr1:17548878..17555628hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg386751
hg196751
hg186751
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545709, nsv545698
Samples
Known GenesPADI4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv173n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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