A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv817n54



Internal ID20134241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215687714..215688415hg38UCSC Ensembl
chr1:215861056..215861757hg19UCSC Ensembl
chr1:213927679..213928380hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38702
hg19702
hg18702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549186, nsv549187
Samples
Known GenesUSH2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv817n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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